Corneal dystrophies hereditary. Medical search

Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect.

Disorder caused by loss of endothelium of the central cornea. It is characterized by hyaline endothelial outgrowths on Descemet's membrane, epithelial blisters, reduced vision, and pain.

An autosomal dominant form of hereditary corneal dystrophy due to a defect in cornea-specific KERATIN formation. Mutations in the genes that encode KERATIN-3 and KERATIN-12 have been linked to this disorder.

A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.

A non-fibrillar collagen originally found in DESCEMET MEMBRANE. It is expressed in endothelial cell layers and in tissues undergoing active remodeling. It is heterotrimer comprised of alpha1(VIII) and alpha2(VIII) chains.

Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.

The transparent anterior portion of the fibrous coat of the eye consisting of five layers: stratified squamous CORNEAL EPITHELIUM; BOWMAN MEMBRANE; CORNEAL STROMA; DESCEMET MEMBRANE; and mesenchymal CORNEAL ENDOTHELIUM. It serves as the first refracting medium of the eye. It is structurally continuous with the SCLERA, avascular, receiving its nourishment by permeation through spaces between the lamellae, and is innervated by the ophthalmic division of the TRIGEMINAL NERVE via the ciliary nerves and those of the surrounding conjunctiva which together form plexuses. (Cline et al., Dictionary of Visual Science, 4th ed)

An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)

Disorder occurring in the central or peripheral area of the cornea. The usual degree of transparency becomes relatively opaque.

The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.

A layer of the cornea. It is the basal lamina of the CORNEAL ENDOTHELIUM (from which it is secreted) separating it from the CORNEAL STROMA. It is a homogeneous structure composed of fine collagenous filaments, and slowly increases in thickness with age.

A type I keratin that is found associated with the KERATIN-3 in the CORNEA and is regarded as a marker for corneal-type epithelial differentiation. Mutations in the gene for keratin-12 have been associated with MEESMANN CORNEAL EPITHELIAL DYSTROPHY.

Macromolecular organic compounds that contain carbon, hydrogen, oxygen, nitrogen, and usually, sulfur. These macromolecules (proteins) form an intricate meshwork in which cells are embedded to construct tissues. Variations in the relative types of macromolecules and their organization determine the type of extracellular matrix, each adapted to the functional requirements of the tissue. The two main classes of macromolecules that form the extracellular matrix are: glycosaminoglycans, usually linked to proteins (proteoglycans), and fibrous proteins (e.g., COLLAGEN; ELASTIN; FIBRONECTINS; and LAMININ).

A layer of acellular matrix that lies beneath the CORNEAL EPITHELIUM and above the CORNEAL STROMA. It consists of randomly arranged COLLAGEN fibers in a condensed bed of intercellular substance. It provides stability and strength to the cornea.

Single layer of large flattened cells covering the surface of the cornea.

Partial or total replacement of all layers of a central portion of the cornea.

A noninflammatory, usually bilateral protrusion of the cornea, the apex being displaced downward and nasally. It occurs most commonly in females at about puberty. The cause is unknown but hereditary factors may play a role. The -conus refers to the cone shape of the corneal protrusion. (From Dorland, 27th ed)

A sulfated mucopolysaccharide initially isolated from bovine cornea. At least two types are known. Type I, found mostly in the cornea, contains D-galactose and D-glucosamine-6-O-sulfate as the repeating unit; type II, found in skeletal tissues, contains D-galactose and D-galactosamine-6-O-sulfate as the repeating unit.

Diseases in which there is a familial pattern of AMYLOIDOSIS.

The lamellated connective tissue constituting the thickest layer of the cornea between the Bowman and Descemet membranes.

Biochemical identification of mutational changes in a nucleotide sequence.

Partial or total replacement of the CORNEA from one human or animal to another.

Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.

Descriptive terms and identifying codes for reporting medical services and procedures performed by PHYSICIANS. It is produced by the AMERICAN MEDICAL ASSOCIATION and used in insurance claim reporting for MEDICARE; MEDICAID; and private health insurance programs (From CPT 2002).

A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues.

Measurement of the thickness of the CORNEA.

An enzyme that, in the pathway of cholesterol biosynthesis, catalyzes the condensation of isopentenyl pyrophosphate and dimethylallylpyrophosphate to yield pyrophosphate and geranylpyrophosphate. The enzyme then catalyzes the condensation of the latter compound with another molecule of isopentenyl pyrophosphate to yield pyrophosphate and farnesylpyrophosphate. EC 2.5.1.1.

A factor synthesized in a wide variety of tissues. It acts synergistically with TGF-alpha in inducing phenotypic transformation and can also act as a negative autocrine growth factor. TGF-beta has a potential role in embryonal development, cellular differentiation, hormone secretion, and immune function. TGF-beta is found mostly as homodimer forms of separate gene products TGF-beta1, TGF-beta2 or TGF-beta3. Heterodimers composed of TGF-beta1 and 2 (TGF-beta1.2) or of TGF-beta2 and 3 (TGF-beta2.3) have been isolated. The TGF-beta proteins are synthesized as precursor proteins.

An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)

Diseases of the cornea.

A type II keratin that is found associated with the KERATIN-12 in the CORNEA and is regarded as a marker for corneal-type epithelial differentiation. Mutations in the gene for keratin-3 have been associated with MEESMANN CORNEAL EPITHELIAL DYSTROPHY.

A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa.

A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)

The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.

Enzymes which transfer sulfate groups to various acceptor molecules. They are involved in posttranslational sulfation of proteins and sulfate conjugation of exogenous chemicals and bile acids. EC 2.8.2.

An individual having different alleles at one or more loci regarding a specific character.

One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).

Stratified squamous epithelium that covers the outer surface of the CORNEA. It is smooth and contains many free nerve endings.

The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.

A type of refractive surgery of the CORNEA to correct MYOPIA and ASTIGMATISM. An EXCIMER LASER is used directly on the surface of the EYE to remove some of the CORNEAL EPITHELIUM thus reshaping the anterior curvature of the cornea.

An excessive amount of fluid in the cornea due to damage of the epithelium or endothelium causing decreased visual acuity.

Fibroblasts which occur in the CORNEAL STROMA.

Gas lasers with excited dimers (i.e., excimers) as the active medium. The most commonly used are rare gas monohalides (e.g., argon fluoride, xenon chloride). Their principal emission wavelengths are in the ultraviolet range and depend on the monohalide used (e.g., 193 nm for ArF, 308 nm for Xe Cl). These lasers are operated in pulsed and Q-switched modes and used in photoablative decomposition involving actual removal of tissue. (UMDNS, 2005)

A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant, and autosomal recessive gene mutations.

Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.

A strain of mice arising from a spontaneous MUTATION (mdx) in inbred C57BL mice. This mutation is X chromosome-linked and produces viable homozygous animals that lack the muscle protein DYSTROPHIN, have high serum levels of muscle ENZYMES, and possess histological lesions similar to human MUSCULAR DYSTROPHY. The histological features, linkage, and map position of mdx make these mice a worthy animal model of DUCHENNE MUSCULAR DYSTROPHY.

The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.

An individual in which both alleles at a given locus are identical.

A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)

The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.

A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.

A group of sporadic, familial and/or inherited, degenerative, and infectious disease processes, linked by the common theme of abnormal protein folding and deposition of AMYLOID. As the amyloid deposits enlarge they displace normal tissue structures, causing disruption of function. Various signs and symptoms depend on the location and size of the deposits.

A family of transmembrane dystrophin-associated proteins that play a role in the membrane association of the DYSTROPHIN-ASSOCIATED PROTEIN COMPLEX.

In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.

The measurement of curvature and shape of the anterior surface of the cornea using techniques such as keratometry, keratoscopy, photokeratoscopy, profile photography, computer-assisted image processing and videokeratography. This measurement is often applied in the fitting of contact lenses and in diagnosing corneal diseases or corneal changes including keratoconus, which occur after keratotomy and keratoplasty.

Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.

Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.

Clarity or sharpness of OCULAR VISION or the ability of the eye to see fine details. Visual acuity depends on the functions of RETINA, neuronal transmission, and the interpretative ability of the brain. Normal visual acuity is expressed as 20/20 indicating that one can see at 20 feet what should normally be seen at that distance. Visual acuity can also be influenced by brightness, color, and contrast.

A light microscopic technique in which only a small spot is illuminated and observed at a time. An image is constructed through point-by-point scanning of the field in this manner. Light sources may be conventional or laser, and fluorescence or transmitted observations are possible.

Membrane proteins whose primary function is to facilitate the transport of negatively charged molecules (anions) across a biological membrane.

The naturally occurring or experimentally induced replacement of one or more AMINO ACIDS in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish, enhance, or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties.

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.

A subtype of transforming growth factor beta that is synthesized by a wide variety of cells. It is synthesized as a precursor molecule that is cleaved to form mature TGF-beta 1 and TGF-beta1 latency-associated peptide. The association of the cleavage products results in the formation a latent protein which must be activated to bind its receptor. Defects in the gene that encodes TGF-beta1 are the cause of CAMURATI-ENGELMANN SYNDROME.

An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy.

The magnitude of INBREEDING in humans.

Dystrophin-associated proteins that play role in the formation of a transmembrane link between laminin-2 and DYSTROPHIN. Both the alpha and the beta subtypes of dystroglycan originate via POST-TRANSLATIONAL PROTEIN PROCESSING of a single precursor protein.

Created 1 January 1993 as a result of the division of Czechoslovakia into the Czech Republic and Slovakia.

A syndrome characterized by severe burning pain in an extremity accompanied by sudomotor, vasomotor, and trophic changes in bone without an associated specific nerve injury. This condition is most often precipitated by trauma to soft tissue or nerve complexes. The skin over the affected region is usually erythematous and demonstrates hypersensitivity to tactile stimuli and erythema. (Adams et al., Principles of Neurology, 6th ed, p1360; Pain 1995 Oct;63(1):127-33)

The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)

A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.

Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.

The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.

An autosomally-encoded 376-kDa cytoskeletal protein that is similar in structure and function to DYSTROPHIN. It is a ubiquitously-expressed protein that plays a role in anchoring the CYTOSKELETON to the PLASMA MEMBRANE.

Autosomal dominant hereditary maculopathy with childhood-onset accumulation of LIPOFUSION in RETINAL PIGMENT EPITHELIUM. Affected individuals develop progressive central acuity loss, and distorted vision (METAMORPHOPSIA). It is associated with mutations in bestrophin, a chloride channel.

A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera.

A fibrous protein complex that consists of proteins folded into a specific cross beta-pleated sheet structure. This fibrillar structure has been found as an alternative folding pattern for a variety of functional proteins. Deposits of amyloid in the form of AMYLOID PLAQUES are associated with a variety of degenerative diseases. The amyloid structure has also been found in a number of functional proteins that are unrelated to disease.

The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.

A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles.

A family of transcription factors that contain regions rich in basic residues, LEUCINE ZIPPER domains, and HELIX-LOOP-HELIX MOTIFS.

A non-fibrillar collagen found in the structure of BASEMENT MEMBRANE. Collagen type IV molecules assemble to form a sheet-like network which is involved in maintaining the structural integrity of basement membranes. The predominant form of the protein is comprised of two alpha1(IV) subunits and one alpha2(IV) subunit, however, at least six different alpha subunits can be incorporated into the heterotrimer.

Membrane transporters that co-transport two or more dissimilar molecules in the opposite direction across a membrane. Usually the transport of one ion or molecule is against its electrochemical gradient and is "powered" by the movement of another ion or molecule with its electrochemical gradient.

The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.

A social group consisting of parents or parent substitutes and children.

A small leucine-rich proteoglycan that interacts with FIBRILLAR COLLAGENS and modifies the EXTRACELLULAR MATRIX structure of CONNECTIVE TISSUE. Decorin has also been shown to play additional roles in the regulation of cellular responses to GROWTH FACTORS. The protein contains a single glycosaminoglycan chain and is similar in structure to BIGLYCAN.

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. (1/312)

In 40 western European patients with Stargardt disease (STGD), we found 19 novel mutations in the retina-specific ATP-binding cassette transporter (ABCR) gene, illustrating STGD's high allelic heterogeneity. One mutation, 2588G-->C, identified in 15 (37.5%) patients, shows linkage disequilibrium with a rare polymorphism (2828G-->A) in exon 19, suggesting a founder effect. The guanine at position 2588 is part of the 3' splice site of exon 17. Analysis of the lymphoblastoid cell mRNA of two STGD patients with the 2588G-->C mutation shows that the resulting mutant ABCR proteins either lack Gly863 or contain the missense mutation Gly863Ala. We hypothesize that the 2588G-->C alteration is a mild mutation that causes STGD only in combination with a severe ABCR mutation. This is supported in that the accompanying ABCR mutations in at least five of eight STGD patients are null (severe) and that a combination of two mild mutations has not been observed among 68 STGD patients. The 2588G-->C mutation is present in 1 of every 35 western Europeans, a rate higher than that of the most frequent severe autosomal recessive mutation, the cystic fibrosis conductance regulator gene mutation DeltaPhe508. Given an STGD incidence of 1/10,000, homozygosity for the 2588G-->C mutation or compound heterozygosity for this and other mild ABCR mutations probably does not result in an STGD phenotype. (+info)

Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct. (2/312)

BACKGROUND: Congenital hereditary endothelial dystrophy (CHED) is a corneal dystrophy characterised by diffuse bilateral corneal clouding resulting in impaired vision. It is inherited in either an autosomal dominant (AD) or autosomal recessive (AR) manner. The AD form of CHED has been mapped to the pericentromeric region of chromosome 20. Another endothelial dystrophy, posterior polymorphous dystrophy (PPM), has been linked to a larger but overlapping region on chromosome 20. A large, Irish, consanguineous family with AR CHED was investigated to determine if there was linkage to this region. METHODS: The technique of linkage analysis with polymorphic microsatellite markers amplified by polymerase chain reaction (PCR) was used. In addition, a DNA pooling approach to homozygosity mapping was employed to demonstrate the efficiency of this method. RESULTS: Conventional genetic analysis in addition to a pooled DNA strategy excludes linkage of AR CHED to the AD CHED and larger PPMD loci. CONCLUSION: This demonstrates that AR CHED is genetically distinct from AD CHED and PPMD. (+info)

On the role of kerato-epithelin in the pathogenesis of 5q31-linked corneal dystrophies. (3/312)

PURPOSE: Recently, the authors identified a gene, BIGH3, in which different mutations cause a group of hereditary corneal dystrophies: lattice type I and IIIA (CDLI and CDLIIIA), granular Groenouw type I (CDGGI), Avellino (CDA), and Reis-Bucklers' (CDRB). All these disorders are characterized by the progressive accumulation of corneal deposits with different structural organization. Experiments were conducted to determine the role of kerato-epithelin (KE), the product of BIGH3, in the pathogenesis of the diseases. METHODS: KE-15 and KE-2, two rabbit antisera raised against peptides from the 69-364 and 426 - 682 amino acid regions of KE respectively, were used for immunohistology of the corneas obtained after keratoplasty in six CDLI patients, three CDGGI patients, and one CDA patient. RESULTS: The nonamyloid deposits observed in CDGGI stained intensively with KE-15 and KE-2, whereas the amyloid deposits in all analyzed CDLI corneas reacted to KE-2 but not to KE-15. In the CDA cornea, where amyloid and nonamyloid inclusions were present, positive staining with both antisera was observed. CONCLUSIONS: Pathologic amyloid and nonamyloid deposits observed in CDLI, CDGGI-, and CDA-affected corneas are caused by KE accumulation. Different staining patterns of amyloid and nonamyloid deposits observed with antibodies against the amino and carboxyl termini of KE suggest that two mechanisms of KE misfolding are implicated in the pathogenesis of 5q31-linked corneal dystrophies. (+info)

Apolipoproteins J and E co-localise with amyloid in gelatinous drop-like and lattice type I corneal dystrophies. (4/312)

AIMS: Apolipoprotein J (apoJ) and apolipoprotein E (apoE) are thought to contribute to amyloid formation in patients with Alzheimer's disease. The aim of this investigation was to discover whether or not these apolipoproteins associate with corneal amyloid in gelatinous drop-like corneal dystrophy (GDCD) and lattice corneal dystrophy type I (LCD-I). METHODS: Corneas from three eyes of three patients with GDCD and one eye of one patient with LCD-I were examined immunohistochemically using antibodies against apoJ and apoE. Two normal corneas were similarly examined. Tissue sections of brain from a patient with Alzheimer's disease were used as positive controls for the antibodies. For all negative controls, mouse IgG was used instead of the primary antibody. RESULTS: Intense apoJ and apoE immunoreactivities were found in congophilic amyloid deposits in GDCD and LCD-I. These deposits were located subepithelially in GDCD, and subepithelially and intrastromally in LCD-I. In GDCD, immunostaining of subepithelial amyloid with anti-apoJ was noticeably stronger than with anti-apoE. CONCLUSIONS: As in senile plaques in brain from a patient with Alzheimer's disease, apoJ and apoE co-localise with amyloid in corneas with GDCD and LCD-I. (+info)

Corneal guttata associated with the corneal dystrophy resulting from a betaig-h3 R124H mutation. (5/312)

AIMS: To investigate the frequency of corneal guttata in patients with a corneal dystrophy resulting from an Arg124His (R124H) mutation of betaig-h3 gene. METHODS: Slit lamp examination was performed on 30 eyes with corneal dystrophy from a genetically confirmed betaig-h3 R124H mutation and on 50 age matched control eyes. The stage of the corneal dystrophy was classified as stage 0, I, or II and the degree of guttata was classified as none, mild, or severe. Specular microscopic examinations were performed to evaluate the morphology of the corneal endothelium. RESULTS: Slit lamp examination disclosed the presence of corneal guttata in 21 eyes (70%) of the 30 eyes with the corneal dystrophy, but in only one (2%) of the 50 eyes in the age matched control group (p<0.001, chi(2) with Yates's correction). Of the 12 eyes with stage I betaig-h3 R124H corneal dystrophy, seven had no corneal guttata and five had a mild degree of guttata. Of the 18 eyes with stage II, the degree of guttata was none in two, mild in nine, and severe in seven. The degree of corneal guttata was significantly related to the stage of the corneal dystrophy (p<0.0001, Kruskul-Wallis test ANOVA on ranks). There was no significant differences between eyes with betaig-h3 R124H corneal dystrophy and normal eyes in cell density, coefficient of variation, and cell hexagonality of corneal endothelium. CONCLUSION: Corneal guttata are one of the characteristics of the corneal dystrophy resulting from betaig-h3 R124H mutation. (+info)

Acute hydrops in the corneal ectasias: associated factors and outcomes. (6/312)

PURPOSE: To identify factors associated with the development of hydrops and affecting its clinical outcome. METHODS: Chart review of all patients with acute hydrops seen by a referral cornea service during a 2.5-year period between June 1996 and December 1998. RESULTS: Twenty-one patients (22 eyes) with acute hydrops were seen. Nineteen patients had keratoconus, 2 had pellucid marginal degeneration, and 1 had keratoglobus. Twenty-one of 22 (95%) eyes had seasonal allergies and 20 of 22 (91%) eyes had allergy-associated eye-rubbing behavior. Six of 22 (27%) had a diagnosis of Down's syndrome. Six patients were able to identify a traumatic inciting event: vigorous eye rubbing in 4 and traumatic contact lens insertion in 2. The affected area ranged from 7% to 100% of the corneal surface area and was related to disease duration and final visual acuity. Proximity of the area of edema to the corneal limbus ranged from 0 to 2.3 mm and was also related to prognosis. Three serious complications were observed: a leak, an infectious keratitis, and an infectious keratitis and coincidental neovascular glaucoma. Various medical therapies did not differ significantly in their effect on outcome, and ultimately 4 (18%) of 22 patients underwent penetrating keratoplasty. Best-corrected visual acuity was equal to or better than prehydrops visual acuity in 5 of the 6 patients in whom prehydrops visual acuity was known, without corneal transplantation. CONCLUSIONS: Allergy and eye-rubbing appear to be important risk factors in the development of hydrops. Visual results are acceptable in some patients without surgery. Close observation allows for the early detection and treatment of complications such as perforation and infection. (+info)

Ultrastructural localization of sulfated and unsulfated keratan sulfate in normal and macular corneal dystrophy type I. (7/312)

Keratan sulfate (KS) proteoglycans are of importance for the maintenance of corneal transparency as evidenced in the condition macular corneal dystrophy type I (MCD I), a disorder involving the absence of KS sulfation, in which the cornea becomes opaque. In this transmission electron microscope study quantitative immuno- and histochemical methods have been used to examine a normal and MCD I cornea. The monoclonal antibody, 5-D-4, has been used to localize sulfated KS and the lectin Erythrina cristagalli agglutinin (ECA) to localize poly N -acetyllactosamine (unsulfated KS). In normal cornea high levels of sulfated KS were detected in the stroma, Bowman's layer, and Descemet's membrane and low levels in the keratocytes, epithelium and endothelium. Furthermore, in normal cornea, negligible levels of labeling were found for N -acetyllactosamine (unsulfated KS). In the MCD I cornea sulfated KS was not detected anywhere, but a specific distribution of N -acetyllactosamine (unsulfated KS) was evident: deposits found in the stroma, keratocytes, and endothelium labeled heavily as did the disrupted posterior region of Descemet's membrane. However, the actual cytoplasm of cells and the undisrupted regions of stroma revealed low levels of labeling. In conclusion, little or no unsulfated KS is present in normal cornea, but in MCD I cornea the abnormal unsulfated KS was localized in deposits and did not associate with the collagen fibrils of the corneal stroma. This study has also shown that ECA is an effective probe for unsulfated KS. (+info)

Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family. (8/312)

AIMS: To establish a clinical and molecular diagnosis in a family with late onset lattice corneal dystrophy. METHODS: Linkage analysis, single strand conformation polymorphism (SSCP) analysis, and direct sequencing of genomic DNA were performed. A review of the patients' clinical symptoms and signs was undertaken. RESULTS: Linkage to chromosome 9q34 was established and a mutation in the gelsolin gene was found in affected individuals. Numerous symptoms experienced by the patients were attributable to this mutation. CONCLUSION: A diagnosis of amyloidosis type V (familial amyloidosis, Finnish type, FAF/Meretoja syndrome/gelsolin related amyloidosis) was made. This is the first case of amyloidosis type V described in the UK. This emphasises the importance of recognition of the extraocular manifestations of eye disease both in the diagnosis and management of the patient. In addition, these findings can help molecular geneticists in their search for disease-causing mutations. (+info)

There are several types of hereditary corneal dystrophies, each with different clinical features and modes of inheritance. Some of the most common forms include:

1. Keratoconus: This is a progressive thinning of the cornea, which can cause irregular astigmatism and visual distortion. It is the most common form of corneal dystrophy and usually affects both eyes.
2. Familial Corneal Dystrophy Type 1 (FCD1): This is an autosomal dominant disorder that affects the central cornea, causing progressive opacification and visual loss.
3. Familial Corneal Dystrophy Type 2 (FCD2): This is an autosomal recessive disorder that affects both eyes and causes progressive opacification of the peripheral cornea.
4. Granular Corneal Dystrophy (GCD): This is a rare form of corneal dystrophy characterized by the accumulation of granular material in the cornea, leading to vision loss.
5. Avellar Corneal Dystrophy: This is a rare autosomal recessive disorder that affects both eyes and causes progressive opacification of the central cornea.

The diagnosis of hereditary corneal dystrophies is based on a combination of clinical examination, imaging studies (such as optical coherence tomography), and genetic testing. Treatment options vary depending on the specific type of dystrophy and the severity of symptoms, but may include glasses or contact lenses, corneal transplantation, or phototherapeutic keratectomy.

In conclusion, hereditary corneal dystrophies are a group of genetic disorders that affect the cornea and can cause significant vision loss and blindness. Early diagnosis and treatment are crucial to prevent or slow down the progression of these diseases. Ophthalmologists play a key role in the diagnosis and management of hereditary corneal dystrophies, and genetic testing may be useful in identifying the specific type of dystrophy and guiding treatment decisions.

The disease is caused by mutations in the genes responsible for the development and maintenance of the corneal endothelium. The exact prevalence of Fuchs' endothelial dystrophy is not known, but it is estimated to affect approximately 1 in 10,000 to 1 in 20,000 individuals worldwide.

The symptoms of Fuchs' endothelial dystrophy typically begin in the third to fifth decade of life and may include:

1. Blurred vision
2. Ghosting or hazing of images
3. Sensitivity to light
4. Eye pain
5. Redness and irritation of the eye

The disease progresses slowly over several years, leading to more severe symptoms and eventually causing significant vision loss.

Fuchs' endothelial dystrophy is diagnosed through a comprehensive eye exam, including a visual acuity test, refraction, and slit-lamp biomicroscopy. Imaging tests such as ultrasound or optical coherence tomography may also be used to evaluate the cornea and assess the progression of the disease.

There is currently no cure for Fuchs' endothelial dystrophy, but various treatments are available to manage the symptoms and slow the progression of the disease. These may include:

1. Glasses or contact lenses to correct refractive errors
2. Medications to reduce inflammation and pain
3. Phototherapy with ultraviolet light to promote healing
4. Endothelial cell transplantation to replace damaged cells
5. Corneal transplantation in severe cases

It is important for individuals with Fuchs' endothelial dystrophy to receive regular eye exams to monitor the progression of the disease and adjust their treatment plan as needed. With appropriate management, many people with Fuchs' endothelial dystrophy are able to maintain good vision and quality of life.

The symptoms of Meesmann's dystrophy can vary in severity but may include:

* Blurred vision
* Sensitivity to light
* Difficulty seeing at night
* Eye pain or discomfort
* Redness and irritation of the eye
* Increased tearing
* Clouding of the cornea

Meesmann's dystrophy is diagnosed through a comprehensive eye exam, including imaging tests such as optical coherence tomography (OCT) and genetic testing to identify mutations in the TGFA gene.

There is no cure for Meesmann's dystrophy, but there are various treatments available to manage the symptoms and slow the progression of the disease. These may include:

* Glasses or contact lenses to correct blurred vision
* Eye drops or ointments to reduce inflammation and irritation
* Surgery to remove the cloudy layer of the cornea
* Laser therapy to improve vision

It's important for individuals with Meesmann's dystrophy to receive regular eye exams to monitor their condition and adjust their treatment plan as needed. With appropriate management, many people with Meesmann's dystrophy can achieve good vision and a good quality of life.

There are several types of muscular dystrophies, including:

1. Duchenne muscular dystrophy (DMD): This is the most common form of muscular dystrophy, affecting males primarily. It is caused by a mutation in the dystrophin gene and is characterized by progressive muscle weakness, wheelchair dependence, and shortened lifespan.
2. Becker muscular dystrophy (BMD): This is a less severe form of muscular dystrophy than DMD, affecting both males and females. It is caused by a mutation in the dystrophin gene and is characterized by progressive muscle weakness, but with a milder course than DMD.
3. Limb-girdle muscular dystrophy (LGMD): This is a group of disorders that affect the muscles around the shoulders and hips, leading to progressive weakness and degeneration. There are several subtypes of LGMD, each with different symptoms and courses.
4. Facioscapulohumeral muscular dystrophy (FSHD): This is a rare form of muscular dystrophy that affects the muscles of the face, shoulder, and upper arm. It is caused by a mutation in the D4Z4 repeat on chromosome 4.
5. Myotonic dystrophy: This is the most common adult-onset form of muscular dystrophy, affecting both males and females. It is characterized by progressive muscle stiffness, weakness, and wasting, as well as other symptoms such as cataracts, myotonia, and cognitive impairment.

There is currently no cure for muscular dystrophies, but various treatments are available to manage the symptoms and slow the progression of the disease. These include physical therapy, orthotics and assistive devices, medications to manage pain and other symptoms, and in some cases, surgery. Researchers are actively working to develop new treatments and a cure for muscular dystrophies, including gene therapy, stem cell therapy, and small molecule therapies.

It's important to note that muscular dystrophy can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner, depending on the specific type of dystrophy. This means that the risk of inheriting the condition depends on the mode of inheritance and the presence of mutations in specific genes.

In summary, muscular dystrophy is a group of genetic disorders characterized by progressive muscle weakness and degeneration. There are several types of muscular dystrophy, each with different symptoms and courses. While there is currently no cure for muscular dystrophy, various treatments are available to manage the symptoms and slow the progression of the disease. Researchers are actively working to develop new treatments and a cure for muscular dystrophy.

There are two main types of myotonic dystrophy:

1. Type 1 (also known as DM1): This is the most common form of the disorder and affects about 90% of all cases. It is caused by a mutation in the DMPK gene on chromosome 19.
2. Type 2 (also known as DM2): This form of the disorder is less common and affects about 10% of all cases. It is caused by a mutation in the CNBP gene on chromosome 3.

Symptoms of myotonic dystrophy typically appear in adults between the ages of 20 and 40, but can sometimes be present at birth. They may include:

* Muscle stiffness and rigidity
* Weakness of the face, neck, and limbs
* Difficulty swallowing (dysphagia)
* Difficulty speaking or slurred speech (dysarthria)
* Eye problems, such as cataracts or muscle imbalance in the eyelids
* Cramps and muscle spasms
* Fatigue and weakness
* Slowed muscle relaxation after contraction (myotonia)

Myotonic dystrophy is diagnosed through a combination of physical examination, medical history, and genetic testing. There is currently no cure for the disorder, but various treatments can help manage symptoms and slow its progression. These may include:

* Physical therapy to improve muscle strength and function
* Medications to relax muscles and reduce spasms
* Speech therapy to improve communication and swallowing difficulties
* Occupational therapy to assist with daily activities and independence
* Orthotics and assistive devices to help with mobility and other challenges

It is important for individuals with myotonic dystrophy to work closely with their healthcare providers to manage their symptoms and maintain a good quality of life. With appropriate treatment and support, many people with the disorder are able to lead active and fulfilling lives.

The symptoms of DMD typically become apparent in early childhood and progress rapidly. They include:

* Delayed motor development
* Weakness and wasting of muscles, particularly in the legs and pelvis
* Muscle weakness that worsens over time
* Loss of muscle mass and fatigue
* Difficulty walking, running, or standing
* Heart problems, such as cardiomyopathy and arrhythmias
* Respiratory difficulties, such as breathing problems and pneumonia

DMD is diagnosed through a combination of clinical evaluation, muscle biopsy, and genetic testing. Treatment options are limited and focus on managing symptoms and improving quality of life. These may include:

* Physical therapy to maintain muscle strength and function
* Medications to manage pain, spasms, and other symptoms
* Assistive devices, such as braces and wheelchairs, to improve mobility and independence
* Respiratory support, such as ventilation assistance, to manage breathing difficulties

The progression of DMD is highly variable, with some individuals experiencing a more rapid decline in muscle function than others. The average life expectancy for individuals with DMD is approximately 25-30 years, although some may live into their 40s or 50s with appropriate medical care and support.

Duchenne muscular dystrophy is a devastating and debilitating condition that affects thousands of individuals worldwide. While there is currently no cure for the disorder, ongoing research and advancements in gene therapy and other treatments offer hope for improving the lives of those affected by DMD.

1. Duchenne muscular dystrophy: This is the most common form of muscular dystrophy in children, caused by a defect in the DMD gene that codes for dystrophin protein. It affects boys primarily and can lead to progressive muscle weakness and wasting, as well as cardiac and other complications.
2. Becker muscular dystrophy: This is a milder form of muscular dystrophy than Duchenne, caused by a defect in the DMD gene that codes for dystrophin protein. It primarily affects boys but can also affect girls.
3. Limb-girdle muscular dystrophy: This is a group of disorders characterized by progressive muscle weakness and degeneration, particularly affecting the shoulder and pelvic girdles. There are several types of limb-girdle muscular dystrophy, including type 1A, 1B, 2A, and 2B.
4. Facioscapulohumeral muscular dystrophy: This is a type of muscular dystrophy that affects the muscles of the face, shoulder blades, and upper arms. It can cause progressive muscle weakness, wasting, and fatigue.
5. Myotonic muscular dystrophy: This is the most common form of adult-onset muscular dystrophy, caused by a defect in the DMPK gene that codes for myotonia protein. It can cause progressive muscle stiffness, spasms, and weakness, as well as other complications such as cataracts and type 2 diabetes.

In animals, muscular dystrophy is similar to human forms of the disorder, caused by genetic mutations that affect muscle function and strength. It can be caused by a variety of factors, including genetics, nutrition, and environmental exposures.

Symptoms of muscular dystrophy in animals can include:

1. Progressive muscle weakness and wasting
2. Loss of coordination and balance
3. Difficulty walking or running
4. Muscle cramps and spasms
5. Poor appetite and weight loss
6. Increased breathing rate and difficulty breathing
7. Cardiac problems, such as arrhythmias and heart failure
8. Cognitive decline and seizures

Diagnosis of muscular dystrophy in animals is similar to human patients, involving a combination of physical examination, medical history, and diagnostic tests such as blood tests, imaging studies, and muscle biopsy.

Treatment for muscular dystrophy in animals is limited, but may include:

1. Supportive care, such as antibiotics for respiratory infections and pain management
2. Physical therapy to maintain joint mobility and prevent deformities
3. Nutritional support to ensure adequate nutrition and hydration
4. Medications to manage symptoms such as muscle spasms and seizures
5. Assistive devices, such as wheelchairs or slings, to improve mobility and quality of life

Prevention of muscular dystrophy in animals is not possible at present, but research into the genetic causes and potential treatments for the disease is ongoing. It is important for pet owners to be aware of the signs of muscular dystrophy and seek veterinary care if they suspect their pet may be affected.

While there is no cure for keratoconus, there are several treatment options available to help manage the condition. These include eyeglasses or contact lenses, specialized contact lenses called rigid gas permeable (RGP) lenses, and corneal transplantation in severe cases. Other treatments that may be recommended include phototherapeutic keratectomy (PTK), which involves removing damaged tissue from the cornea using a laser, or intacs, which are tiny plastic inserts that are placed into the cornea to flatten it and improve vision.

Keratoconus is relatively rare, affecting about 1 in every 2,000 people worldwide. However, it is more common in certain groups of people, such as those with a family history of the condition or those who have certain medical conditions, such as Down syndrome or sickle cell anemia. It typically affects both eyes, although one eye may be more severely affected than the other.

While there is no known cause for keratoconus, researchers believe that it may be linked to genetics, environmental factors, or a combination of both. The condition usually begins in adolescence or early adulthood and can progress over several years. In some cases, keratoconus can also be associated with other eye conditions, such as cataracts, glaucoma, or retinal detachment.

The different types of familial amyloidosis include:

1. Familial amyloid polyneuropathy (FAP): This is the most common type of familial amyloidosis and is characterized by the accumulation of amyloid fibers in the nerves, leading to progressive nerve damage and loss of sensation.
2. Familial amyloid cardiomyopathy (FAC): This type of amyloidosis affects the heart and is characterized by the accumulation of amyloid fibers in the heart muscle, leading to progressive heart failure.
3. Familial amyloidotic polyneuropathy (FAP): This type of amyloidosis affects the nerves and is characterized by the accumulation of amyloid fibers in the nerves, leading to progressive nerve damage and loss of sensation.
4. Primary amyloidosis (AL): This is a type of amyloidosis that is not inherited and is characterized by the accumulation of amyloid fibers in various organs and tissues throughout the body.

The symptoms of familial amyloidosis can vary depending on the specific type and the organs affected. Common symptoms include:

* Nerve damage and loss of sensation
* Heart failure
* Weakness and fatigue
* Pain
* Nausea and vomiting
* Diarrhea
* Constipation
* Weight loss

The diagnosis of familial amyloidosis is based on a combination of clinical findings, laboratory tests, and genetic analysis. Laboratory tests may include:

* Blood tests to measure the level of amyloid fibers in the blood
* Urine tests to measure the level of amyloid fibers in the urine
* Imaging studies such as X-rays, CT scans, or MRI scans to visualize the accumulation of amyloid fibers in the organs and tissues.

Treatment for familial amyloidosis is aimed at managing the symptoms and slowing the progression of the disease. Treatment options may include:

* Medications to manage pain, nausea, and vomiting
* Physical therapy to maintain muscle strength and mobility
* Dietary modifications to manage weight loss and malnutrition
* Heart failure medications to manage heart failure
* Kidney dialysis or transplantation to manage kidney failure
* Stem cell transplantation to slow the progression of the disease.

The prognosis for familial amyloidosis is generally poor, and the disease can be fatal within a few years after diagnosis. However, with early diagnosis and appropriate treatment, some people with familial amyloidosis may experience a better quality of life and longer survival time. It is important to note that there is currently no cure for familial amyloidosis, and research is ongoing to develop new and more effective treatments for the disease.

There are several types of retinal dystrophies, each with different symptoms and causes. Some common forms of retinal dystrophies include:

1. Retinitis pigmentosa (RP): This is a group of genetic disorders that affect the retina and cause progressive vision loss, usually starting in childhood or adolescence.
2. Leber congenital amaurosis (LCA): This is a rare form of retinal dystrophy that causes blindness or severe visual impairment at birth or during early childhood.
3. Stargardt disease: This is an inherited disorder that affects the retina and causes vision loss, usually starting in childhood or adolescence.
4. Macular degeneration: This is a condition that affects the macula, the part of the retina responsible for central vision. It can cause vision loss and blindness, especially in older adults.

Retinal dystrophies are caused by genetic mutations that affect the structure and function of the retina. They can be inherited from one's parents or occur spontaneously due to a genetic mutation during fetal development. There is currently no cure for retinal dystrophies, but there are various treatments available to slow down the progression of the disease and manage symptoms. These include vitamin supplements, medications, and surgery.

Retinal dystrophies can have a significant impact on an individual's quality of life, affecting their ability to perform daily activities, socialize, and maintain independence. However, advances in medical technology and research have led to new treatments and therapies that offer hope for those affected by these diseases.

The disorder is caused by a defect in one copy of the D4Z4 repeat on chromosome 4, which leads to the degeneration of muscle fibers and a loss of motor neurons. The age of onset and progression of the disease vary widely, with some individuals experiencing symptoms in childhood while others may not develop them until adulthood.

There is no cure for FSHD, but various treatments can help manage the symptoms and slow its progression. These include physical therapy, bracing and orthotics, medications to reduce inflammation and pain, and in some cases, surgery. Research into the genetic causes of the disorder is ongoing, with the goal of developing new and more effective treatments.

1. Keratoconus: This is a progressive thinning of the cornea that can cause it to bulge into a cone-like shape, leading to blurred vision and sensitivity to light.
2. Fuchs' dystrophy: This is a condition in which the cells in the innermost layer of the cornea become damaged, leading to clouding and blurred vision.
3. Bullous keratopathy: This is a condition in which there is a large, fluid-filled bubble on the surface of the cornea, which can cause blurred vision and discomfort.
4. Corneal ulcers: These are open sores on the surface of the cornea that can be caused by infection or other conditions.
5. Dry eye syndrome: This is a condition in which the eyes do not produce enough tears, leading to dryness, irritation, and blurred vision.
6. Corneal abrasions: These are scratches on the surface of the cornea that can be caused by injury or other conditions.
7. Trachoma: This is an infectious eye disease that can cause scarring and blindness if left untreated.
8. Ocular herpes: This is a viral infection that can cause blisters on the surface of the cornea and lead to scarring and vision loss if left untreated.
9. Endophthalmitis: This is an inflammation of the inner layer of the eye that can be caused by bacterial or fungal infections, and can lead to severe vision loss if left untreated.
10. Corneal neovascularization: This is the growth of new blood vessels into the cornea, which can be a complication of other conditions such as dry eye syndrome or ocular trauma.

These are just a few examples of the many different types of corneal diseases that can affect the eyes. It's important to seek medical attention if you experience any symptoms such as pain, redness, or blurred vision in one or both eyes. Early diagnosis and treatment can help prevent complications and preserve vision.

Some common symptoms of corneal edema include:

* Blurred vision
* Haziness or clouding of the cornea
* Increased sensitivity to light
* Redness or discharge in the eye
* Pain or discomfort in the eye

Corneal edema can be diagnosed through a comprehensive eye exam, which may include a visual acuity test, dilated eye exam, and imaging tests such as cornea scans or ultrasound. Treatment for corneal edema depends on the underlying cause and may involve antibiotics, anti-inflammatory medications, or other therapies to reduce swelling and promote healing. In some cases, surgery may be necessary to remove scar tissue or improve drainage of fluid from the eye.

If left untreated, corneal edema can lead to more serious complications such as corneal ulcers or vision loss. Therefore, it is important to seek medical attention if you experience any symptoms of corneal edema to prevent any further damage and ensure proper treatment.

The symptoms of Emery-Dreifuss muscular dystrophy usually become apparent during childhood or adolescence and may include:

* Muscle weakness and wasting
* Delayed motor development
* Frequent falls
* Muscle cramps
* Heart problems (cardiomyopathy)
* Cognitive impairment

The disorder is inherited in an X-linked recessive pattern, meaning that the mutated gene is located on the X chromosome and affects males more severely than females. Females can be carriers of the disorder and may have mild symptoms or be unaffected.

Emery-Dreifuss muscular dystrophy is diagnosed through a combination of clinical evaluation, genetic testing, and muscle biopsy. There is no cure for the disorder, but various treatments can help manage the symptoms and slow its progression. These may include:

* Physical therapy to maintain muscle strength and function
* Medications to control muscle spasms and cramps
* Heart medications to manage cardiomyopathy
* Assistive devices such as braces or wheelchairs

The progression of Emery-Dreifuss muscular dystrophy can vary widely among individuals, with some experiencing a rapid decline in muscle function while others may remain relatively stable for many years. Life expectancy is typically reduced due to the risk of complications such as heart failure and respiratory failure.

In summary, Emery-Dreifuss muscular dystrophy is a rare and debilitating genetic disorder that affects the muscles and can lead to progressive weakness, wasting, and loss of motor function. While there is no cure for the disorder, various treatments can help manage its symptoms and slow its progression. Early diagnosis and ongoing medical management are essential to improve quality of life and reduce the risk of complications.

The term "neuroaxonal" refers to the fact that these disorders affect the axons of the neurons, and "dystrophy" means degeneration or wasting away. Neuroaxonal dystrophies can affect people of all ages, but they are most common in children and young adults.

There are several types of neuroaxonal dystrophies, each with different symptoms and causes. Some of the most common types include:

1. Charcot-Marie-Tooth disease: This is the most common type of neuroaxonal dystrophy, affecting about 1 in 2,500 people. It is caused by mutations in genes that are important for the structure and function of the axons. Symptoms can include muscle weakness, wasting, and loss of sensation in the limbs.
2. Friedreich's ataxia: This is a rare disorder that affects about 1 in 50,000 people. It is caused by mutations in the gene that codes for the protein frataxin, which is important for the function of the axons. Symptoms can include muscle weakness, balance and coordination problems, and vision loss.
3. Leigh syndrome: This is a rare disorder that affects about 1 in 40,000 babies. It is caused by mutations in genes that are important for the function of the mitochondria, which are the energy-producing structures within cells. Symptoms can include muscle weakness, seizures, and loss of vision.
4. Krabbe disease: This is a rare disorder that affects about 1 in 100,000 people. It is caused by mutations in the gene that codes for the enzyme galactocerebrosidase, which is important for the breakdown of certain fats in the body. Symptoms can include muscle weakness, seizures, and loss of vision.
5. Niemann-Pick disease: This is a rare disorder that affects about 1 in 120,000 people. It is caused by mutations in genes that are important for the transport of certain fats within cells. Symptoms can include muscle weakness, seizures, and loss of vision.
6. Tay-Sachs disease: This is a rare disorder that affects about 1 in 25,000 people of Ashkenazi Jewish descent. It is caused by mutations in the gene that codes for the enzyme hexosaminidase A, which is important for the breakdown of certain fats in the body. Symptoms can include muscle weakness, seizures, and loss of vision.
7. Fabry disease: This is a rare disorder that affects about 1 in 30,000 people. It is caused by mutations in the gene that codes for the enzyme alpha-galactosidase A, which is important for the breakdown of certain fats in the body. Symptoms can include muscle weakness, seizures, and loss of vision.
8. Pompe disease: This is a rare disorder that affects about 1 in 40,000 people. It is caused by mutations in the gene that codes for the enzyme acid alpha-glucosidase, which is important for the breakdown of certain fats in the body. Symptoms can include muscle weakness, seizures, and loss of vision.
9. Mucopolysaccharidosis (MPS): This is a group of rare disorders that affect about 1 in 10,000 people. They are caused by mutations in genes that are important for the breakdown of certain sugars in the body. Symptoms can include joint stiffness, heart problems, and developmental delays.
10. Hunter syndrome: This is a rare disorder that affects about 1 in 100,000 people. It is caused by mutations in the gene that codes for the enzyme iduronidase, which is important for the breakdown of certain sugars in the body. Symptoms can include joint stiffness, heart problems, and developmental delays.

These are just a few examples of rare genetic disorders that can affect the nervous system. There are many more such disorders, each with its own unique set of symptoms and causes. It is important for individuals who suspect they or their children may have one of these disorders to seek medical attention as soon as possible. Early diagnosis and treatment can make a significant difference in the outcome for these conditions.

There are several types of amyloidosis, each with different causes and symptoms. The most common types include:

1. Primary amyloidosis: This type is caused by the production of abnormal proteins in the bone marrow. It mainly affects older adults and can lead to symptoms such as fatigue, weight loss, and numbness or tingling in the hands and feet.
2. Secondary amyloidosis: This type is caused by other conditions, such as rheumatoid arthritis, tuberculosis, or inflammatory bowel disease. It can also be caused by long-term use of certain medications, such as antibiotics or chemotherapy.
3. Familial amyloid polyneuropathy: This type is inherited and affects the nerves in the body, leading to symptoms such as muscle weakness, numbness, and pain.
4. Localized amyloidosis: This type affects a specific area of the body, such as the tongue or the skin.

The symptoms of amyloidosis can vary depending on the organs affected and the severity of the condition. Some common symptoms include:

1. Fatigue
2. Weakness
3. Pain
4. Numbness or tingling in the hands and feet
5. Swelling in the legs, ankles, and feet
6. Difficulty with speech or swallowing
7. Seizures
8. Heart problems
9. Kidney failure
10. Liver failure

The diagnosis of amyloidosis is based on a combination of physical examination, medical history, laboratory tests, and imaging studies. Laboratory tests may include blood tests to measure the levels of certain proteins in the body, as well as biopsies to examine tissue samples under a microscope. Imaging studies, such as X-rays, CT scans, and MRI scans, may be used to evaluate the organs affected by the condition.

There is no cure for amyloidosis, but treatment can help manage the symptoms and slow the progression of the disease. Treatment options may include:

1. Medications to control symptoms such as pain, swelling, and heart problems
2. Chemotherapy to reduce the production of abnormal proteins
3. Autologous stem cell transplantation to replace damaged cells with healthy ones
4. Dialysis to remove excess fluids and waste products from the body
5. Nutritional support to ensure adequate nutrition and hydration
6. Physical therapy to maintain muscle strength and mobility
7. Supportive care to manage pain, improve quality of life, and reduce stress on the family.

In conclusion, amyloidosis is a complex and rare group of diseases that can affect multiple organs and systems in the body. Early diagnosis and treatment are essential to managing the symptoms and slowing the progression of the disease. It is important for patients with suspected amyloidosis to seek medical attention from a specialist, such as a hematologist or nephrologist, for proper evaluation and treatment.

The symptoms of OPMD usually develop gradually over time and may include:

1. Difficulty swallowing (dysphagia)
2. Weakness or paralysis of the eye muscles (ophthalmoplegia)
3. Droopy eyelids (ptosis)
4. Double vision (diplopia)
5. Trouble moving the eyes (oculomotor dysfunction)
6. Wasting of the muscles in the throat (pharyngeal weakness)
7. Weakness in the face, arms, or legs

OPMD is caused by mutations in the PABPN1 gene, which codes for a protein involved in the repair and maintenance of muscle tissue. There is currently no cure for OPMD, but various treatments can help manage its symptoms and slow its progression. These may include:

1. Glasses or contact lenses to correct vision problems
2. Eye exercises to improve eye movements
3. Physical therapy to maintain muscle strength and function
4. Speech therapy to improve swallowing and communication
5. Medications to manage double vision, droopy eyelids, and other symptoms
6. Assistive devices such as wheelchairs or walkers to aid mobility

The progression of OPMD can vary greatly between individuals, with some experiencing mild symptoms while others may experience more severe and debilitating effects. With proper management and support, however, many people with OPMD can lead active and fulfilling lives despite their condition.

The symptoms of RSD can vary in severity and may include:

* Severe pain that is disproportionate to the original injury
* Swelling and inflammation in the affected limb
* Redness and warmth of the skin
* Limited mobility and stiffness in the affected joints
* Abnormalities in sensation, such as increased sensitivity to touch or temperature changes
* Weakness or wasting of muscles in the affected limb

RSD can be difficult to diagnose, as it mimics other conditions such as nerve damage or infection. Treatment options for RSD include pain medication, physical therapy, and alternative therapies such as acupuncture or massage. In severe cases, surgery may be necessary to relieve symptoms.

While there is no cure for RSD, early diagnosis and treatment can help manage symptoms and improve quality of life for those affected. It is important for individuals with RSD to work closely with their healthcare provider to find the most effective treatment plan for their specific needs.

The disorder is caused by mutations in the genes that code for proteins involved in the transport and metabolism of lipids in the retinal cells. The vitelliform deposits that accumulate in the macula are thought to disrupt the normal functioning of the retinal cells, leading to progressive vision loss over time.

VMD typically affects both eyes, with symptoms usually appearing in early childhood or adolescence. The initial symptoms may include blurred vision, difficulty reading, and poor color perception. As the condition progresses, central vision can become severely impaired, leading to difficulties with daily activities such as driving, reading, and recognizing faces.

There is currently no cure for VMD, but various treatments are being explored to slow down the progression of the disorder. These may include vitamin supplements, anti-inflammatory medications, and photodynamic therapy. In severe cases, surgical intervention may be necessary to remove the vitelliform deposits and restore some vision.

Early diagnosis of VMD is important to help manage the condition and prevent complications. Diagnosis is typically made through a combination of ophthalmoscopy, fundus photography, and genetic testing. Genetic testing can identify the specific genetic mutations responsible for the disorder and help guide treatment decisions.

Overall, VMD is a rare and debilitating eye disorder that can significantly impact an individual's quality of life. While there is currently no cure, ongoing research is working towards developing new treatments to slow down the progression of the disorder and improve visual outcomes for those affected.

The cause of arcus senilis is not well understood, but it may be related to aging, sun exposure, smoking, or systemic diseases such as high blood pressure or diabetes. The condition does not impair vision and is usually asymptomatic, but it can be an early sign of other eye disorders, such as cataracts or age-related macular degeneration (AMD).

Arcus senilis is typically diagnosed through a comprehensive eye exam, which includes visual acuity testing, refraction, and retinoscopy to determine the curvature of the cornea. The presence of arcus senilis is confirmed by observing the deposits on the rim of the cornea with a slit-lamp biomicroscope.

There is no specific treatment for arcus senilis, but monitoring the condition regularly can help detect any progression or associated eye disorders early. Management of underlying systemic conditions, such as high blood pressure or diabetes, may also be beneficial in slowing the progression of the condition. In some cases, arcus senilis may resolve spontaneously over time.

In summary, arcus senilis is a harmless age-related condition characterized by white deposits on the rim of the cornea that can be an early sign of other eye disorders. Regular monitoring and management of underlying systemic conditions can help detect any progression or associated eye disorders early.

"corneal dystrophy and sensorineural deafness , Hereditary Ocular Diseases". disorders.eyes.arizona.edu. Retrieved 2022-08-03. ... Corneal dystrophy Sensorineural hearing loss "Corneal dystrophy and perceptive deafness". "Corneal Dystrophy and Perceptive ... is a rare genetic disorder characterized by congenital hereditary corneal dystrophy that occurs alongside progressive hearing ... "Entry - #217400 - CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS; CDPD - OMIM". www.omim.org. Retrieved 2022-08-03. Desir, Julie; ...

https://en.wikipedia.org/wiki/Corneal_dystrophy-perceptive_deafness_syndrome

Kiuru-Enari S, Keski-Oja J, Haltia M (February 2005). "Cutis laxa in hereditary gelsolin amyloidosis". Br. J. Dermatol. 152 (2 ... Lattice corneal dystrophy type is a rare form of corneal dystrophy. It has no systemic manifestations, unlike the other type of ... the dystrophy, Lattice corneal dystrophy type II. Lattice corneal dystrophy was first described by Swiss ophthalmologist Hugo ... Lattice corneal dystrophy has three types: type I: with no systemic association. It is caused by mutations in TGFBI gene ...

https://en.wikipedia.org/wiki/Lattice_corneal_dystrophy

Corneal dystrophy Thiel HJ, Behnke H (1967). "[A hitherto unknown subepithelial hereditary corneal dystrophy]". Klin Monatsbl ... Thiel-Behnke dystrophy is a rare form of corneal dystrophy affecting the layer that supports corneal epithelium. The dystrophy ... To clarify whether Thiel-Behnke corneal dystrophy is a separate entity from Reis-Bucklers corneal dystrophy, Kuchle et al. ( ... 1995) examined 28 corneal specimens with a clinically suspected diagnosis of corneal dystrophy of the Bowman layer by light and ...

https://en.wikipedia.org/wiki/Thiel–Behnke_dystrophy

Corneal opacity that results from hereditary dystrophies is usually symmetric. Corneal enlargement may result from megalocornea ... Buphthalmos and Haab's striae can often be seen in case of congenital glaucoma.[citation needed] Corneal cloudiness may have ... The typical infant who has congenital glaucoma usually is initially referred to an ophthalmologist because of apparent corneal ... The commonly described triad of epiphora (excessive tearing), blepharospasm and photophobia may be missed until the corneal ...

https://en.wikipedia.org/wiki/Primary_juvenile_glaucoma

They include hereditary cataracts, corneal dystrophy, distichiasis, entropion, microphthalmia, progressive retinal atrophy, and ... ISBN 978-0-9635163-2-9. "Corneal Dystrophy and the Cavalier King Charles Spaniel". CavalierHealth.org. Retrieved 14 November ... The health problems shared with this breed include mitral valve disease, luxating patella, and hereditary eye issues such as ...

https://en.wikipedia.org/wiki/Cavalier_King_Charles_Spaniel

Congenital hereditary stromal dystrophy (CHSD): CHSD is also known as Congenital stromal corneal dystrophy or Congenital ... or Classic Lattice Dystrophy. LCD type II is not included in corneal dystrophies. Granular corneal dystrophy: Two types, Type 1 ... "Congenital Hereditary Endothelial Dystrophy - EyeWiki". eyewiki.aao.org. "Posterior Polymorphous Corneal Dystrophy - EyeWiki". ... Lattice corneal dystrophy: Lattice corneal dystrophy is an autosomal-dominant characterized by amyloid deposition in the ...

https://en.wikipedia.org/wiki/Corneal_opacity

"Genomic organization of human CDS2 and evaluation as a candidate gene for corneal hereditary endothelial dystrophy 2 on ...

https://en.wikipedia.org/wiki/CDS2

... (MECD) is a rare hereditary autosomal dominant disease that is characterized as a type of corneal ... "Meesmann corneal dystrophy". Genetics Home Reference. Retrieved 2020-05-01. "OMIM Entry - % 300778 - CORNEAL DYSTROPHY, LISCH ... There are two phenotypes, Meesmann corneal dystrophy 1 (MECD1) and Meesmann corneal dystrophy 2 (MECD2), which affect the genes ... by mutations in keratins Epithelial basement membrane dystrophy Reis-Bucklers corneal dystrophy Thiel-Behnke corneal dystrophy ...

https://en.wikipedia.org/wiki/Meesmann_corneal_dystrophy

Congenital hereditary corneal dystrophy (CHED) is a form of corneal endothelial dystrophy that presents at birth. CHED was ... Posterior polymorphous corneal dystrophy (for the condition previously referred to as CHED1) Corneal dystrophy Bowes Hamill, M ... However in 2015, the International Classification of Corneal Dystrophies (IC3D) renamed the condition "CHED1" to become ... July 2006). "Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy ( ...

https://en.wikipedia.org/wiki/Congenital_hereditary_endothelial_dystrophy

... dystrophy Posterior polymorphous corneal dystrophy Congenital hereditary endothelial dystrophy X-linked endothelial corneal ... of lattice corneal dystrophy Granular corneal dystrophy, type 1 Granular corneal dystrophy, type 2 Macular corneal dystrophy ... Lattice corneal dystrophy Granular corneal dystrophy Macular corneal dystrophy Schnyder crystalline corneal dystrophy ... corneal dystrophy Gelatinous drop-like corneal dystrophy Reis-Bücklers corneal dystrophy Thiel-Behnke corneal dystrophy Stromal ...

https://en.wikipedia.org/wiki/Corneal_dystrophy

The breed has minor predispositions to hypothyroidism, demodicosis, cataracts, retinal dysplasia and corneal dystrophy. Judy, ... hereditary sensory neuropathy, spinal muscle atrophy, X-linked cerebellar ataxia and deafness. ...

https://en.wikipedia.org/wiki/Pointer_(dog_breed)

371.2 Corneal oedema 371.3 Changes of corneal membranes 371.4 Corneal degenerations 371.5 Hereditary corneal dystrophies 371.6 ... dystrophies and other myopathies 359.0 Congenital hereditary muscular dystrophy 359.1 Hereditary progressive muscular dystrophy ... keratitis 370.9 Unspecified 371 Corneal opacity and other disorders of cornea 371.0 Corneal scars and opacities 371.1 Corneal ... 362.5 Degeneration of macula and posterior pole 362.6 Peripheral retinal degenerations 362.7 Hereditary retinal dystrophies ...

https://en.wikipedia.org/wiki/List_of_ICD-9_codes_320–389:_diseases_of_the_nervous_system_and_sense_organs

... corneal dystrophies, hereditary MeSH C11.204.236.438 - Fuchs' endothelial dystrophy MeSH C11.204.267 - corneal edema MeSH ... corneal dystrophies, hereditary MeSH C11.270.162.438 - Fuchs' endothelial dystrophy MeSH C11.270.235 - duane retraction ... hereditary MeSH C11.640.451.451.400 - optic atrophy, hereditary, leber MeSH C11.640.451.451.500 - optic atrophy, autosomal ... C11.204.290 - corneal neovascularization MeSH C11.204.299 - corneal opacity MeSH C11.204.299.070 - arcus senilis MeSH C11.204. ...

https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C11)

Meesmann corneal dystrophy Paraneoplastic keratoderma Pityriasis rosea (pityriasis rosea Gibert) Pityriasis rubra pilaris ( ... hereditary painful callosities, hereditary painful callosity syndrome, keratosis follicularis, keratosis palmoplantaris ... Median nail dystrophy (dystrophia unguis mediana canaliformis, median canaliform dystrophy of Heller, solenonychia) Mees' lines ... Hemodialysis-associated amyloidosis Hepatoerythropoietic porphyria Hereditary coproporphyria Hereditary gelsolin amyloidosis ...

https://en.wikipedia.org/wiki/List_of_skin_conditions

... polymorphic Macular dystrophy, vitelliform Macules hereditary congenital hypopigmented and hyperpigmented Mad cow disease ... palate Macrothrombocytopenia progressive deafness Macrothrombocytopenia with leukocyte inclusions Macular corneal dystrophy ... facioscapulohumeral Muscular dystrophy Hutterite type Muscular dystrophy limb girdle type 2A, Erb type Muscular dystrophy limb- ... Muscular dystrophy limb-girdle with delta-sarcoglyan deficiency Muscular dystrophy white matter spongiosis Muscular dystrophy, ...

https://en.wikipedia.org/wiki/List_of_diseases_(M)

Some of the more common hereditary health problems found in the Cairn are: Bronchoesophageal fistula Cataracts Corneal ... dystrophy Craniomandibular osteopathy (lion jaw) Diabetes mellitus Entropion Hip dysplasia Hypothyroidism Krabbe disease ( ... Some of these diseases are hereditary, and others occur as a result of nonspecific factors (e.g., infections, toxins, injuries ... maintains an open registry for Cairn Terriers in hopes of reducing the occurrence of hereditary diseases within the breed. ...

https://en.wikipedia.org/wiki/Cairn_Terrier

... progressive peripheral neuropathy and corneal lattice dystrophy, some of the affected members of the Iranian family have ... Hereditary gelsolin amyloidosis has originally been reported by Finnish ophthalmologist Jouko Meretoja and is known as Meretoja ... Ardalan-Shoja-Kiuru syndrome or hereditary gelsolin amyloidosis plus retinitis pigmentosa has not been found outside this ... Ardalan-Shoja-Kiuru syndrome is a clinical syndrome featuring hereditary gelsolin amyloidosis and retinitis pigmentosa. This ...

https://en.wikipedia.org/wiki/Ardalan–Shoja–Kiuru_syndrome

Significant damage to the membrane may require a corneal transplant. Damage caused by the hereditary condition known as Fuchs ... dystrophy (q.v.)-where Descemet's membrane progressively fails and the cornea thickens and clouds because the exchange of ... The corneal endothelium is a single layer of squamous cells covering the surface of the cornea that faces the anterior chamber ... In the process most of the squamous cells of the donor membrane survive to dramatically and emphatically reverse the corneal ...

https://en.wikipedia.org/wiki/Descemet's_membrane

... palmoplantaris esophageal colon cancer Keratosis palmoplantaris papulosa Keratosis palmoplantaris with corneal dystrophy ... hereditary Keratoacanthoma familial Keratoacanthoma Keratoconjunctivitis sicca Keratoconus posticus circumscriptus Keratoconus ...

https://en.wikipedia.org/wiki/List_of_diseases_(K)

TACSTD2 Corneal dystrophy, Groenouw type I; 121900; TGFBI Corneal dystrophy, hereditary polymorphous posterior; 122000; VSX1 ... COL8A2 Corneal dystrophy, Avellino type; 607541; TGFBI Corneal dystrophy, congenital stromal; 610048; DCN Corneal dystrophy, ... Corneal dystrophy, lattice type I; 122200; TGFBI Corneal dystrophy, lattice type IIIA; 608471; TGFBI Corneal dystrophy, ... ZEB1 Corneal dystrophy, Reis-Bucklers type; 608470; TGFBI Corneal dystrophy, Thiel-Behnke type; 602082; TGFBI Corneal ...

https://en.wikipedia.org/wiki/List_of_OMIM_disorder_codes

... retardation Corneal cerebellar syndrome Corneal crystals myopathy neuropathy Corneal dystrophy Corneal endothelium dystrophy ... photocontact Continuous muscle fiber activity hereditary Continuous spike-wave during slow sleep syndrome Contractural ... hearing loss Condyloma acuminatum Condylomata lata Cone dystrophy Cone rod dystrophy amelogenesis imperfecta Cone-rod dystrophy ... recessive Cutis laxa corneal clouding mental retardation Cutis laxa osteoporosis Cutis laxa with joint laxity and retarded ...

https://en.wikipedia.org/wiki/List_of_diseases_(C)

Central cloudy dystrophy of François (See also corneal dystrophy.) François-Neetens dystrophy Fraser-François syndrome ... In 1983 he was included in the Belgian hereditary nobility with the title of baron. He chose as his motto Ex oculo lux. He ... Central cloudy dystrophy of François, University of Iowa Health Care, Ophthalmology and Visual Sciences Paul Chibret and the ... Central Cloudy Dystrophy of François. In Encyclopedia of Molecular Mechanisms of Disease (pp. 300-300). Springer Berlin ...

https://en.wikipedia.org/wiki/Jules_François

2007). "Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11". J. Med. Genet. 44 ( ... 2007). "Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy". Mol. Vis. ... 2003). "Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy". Am. J. ... 2007). "Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non‐syndromic corneal endothelial dystrophy". J. ...

https://en.wikipedia.org/wiki/Sodium_bicarbonate_transporter-like_protein_11

... from birth and progressive macular corneal dystrophy. Hair growth on the head is noticeably less full than normal, and the ... Hypotrichosis with juvenile macular dystrophy is an autosomal recessive hereditary disease. It is caused by a combination of ... Hypotrichosis with juvenile macular dystrophy (HJMD or CDH3) is an extremely rare congenital disease characterized by sparse ... "A Rare Syndrome: Hypotrichosis with Juvenile Macular Dystrophy (HJMD)". Investigative Ophthalmology & Visual Science. 55 (13): ...

https://en.wikipedia.org/wiki/Hypotrichosis_with_juvenile_macular_dystrophy

... corneal dystrophies, hereditary MeSH C16.320.290.162.410 - Fuchs' endothelial dystrophy MeSH C16.320.290.235 - Duane retraction ... muscular dystrophies, limb-girdle MeSH C16.320.577.300 - muscular dystrophy, Duchenne MeSH C16.320.577.350 - muscular dystrophy ... hereditary central nervous system demyelinating diseases MeSH C16.320.400.400 - hereditary motor and sensory neuropathies MeSH ... hereditary MeSH C16.320.400.630.400 - optic atrophy, hereditary, leber MeSH C16.320.400.630.500 - optic atrophy, autosomal ...

https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C16)

... gene syndrome Conus medullaris syndrome Cooks syndrome Cord colitis syndrome Corneal-cerebellar syndrome Corneal dystrophy- ... cancer syndrome Hereditary hyperbilirubinemia Hereditary leiomyomatosis and renal cell cancer syndrome Hereditary neuralgic ... syndrome GRACILE syndrome Graham-Little syndrome Gray baby syndrome Gray platelet syndrome Grayson-Wilbrandt corneal dystrophy ... syndrome somatostatinoma syndrome Sopite syndrome Sotos syndrome Space adaptation syndrome Spastic ataxia-corneal dystrophy ...

https://en.wikipedia.org/wiki/List_of_syndromes

Hereditary m Hereditary amyloidosis Hereditary angioedema Hereditary ataxia Hereditary carnitine deficiency myopathy Hereditary ... Hemifacial hyperplasia strabismus Hemifacial microsomia Hemihypertrophy in context of NF Hemihypertrophy intestinal web corneal ... transport defect Hypothyroidism postaxial polydactyly mental retardation Hypothyroidism Hypotonic sclerotic muscular dystrophy ... Hereditary t Hereditary nodular heterotopia Hereditary non-spherocytic hemolytic anemia Hereditary pancreatitis Hereditary ...

https://en.wikipedia.org/wiki/List_of_diseases_(H)

... type IV Lattice corneal dystrophy, gelsolin type Lattice corneal dystrophy type 2 (LCD2) Meretoja's syndrome Wrinkly skin ... Kiuru‐Enari, S.; Keski‐Oja, J.; Haltia, M. (2005). "Cutis laxa in hereditary gelsolin amyloidosis". British Journal of ... The most common characteristic is type II lattice corneal dystrophy with other signs such as polyneuropathy, dermatochalasis, ... Familial Amyloidosis, Finnish Type (FAF), also called hereditary gelsolin amyloidosis and AGel amyloidosis (AGel), is an ...

https://en.wikipedia.org/wiki/Familial_Amyloidosis,_Finnish_Type

"Orphanet: Congenital muscular dystrophy". www.orpha.net. Retrieved 2019-04-16. "Corneal dystrophy and perceptive deafness - ... "Hereditary disorder found in Que. families". CTV News. 4 December 2008. Archived from the original on 2008-12-07. "OMIM Entry ... "OMIM Entry - # 310200 - MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD". omim.org. Retrieved 2019-04-16. Uitto J, Has C, Vahidnezhad H ... "Orphanet: Autosomal dominant limb girdle muscular dystrophy". www.orpha.net. Retrieved 2019-04-16. "'MEDNIK': A novel genetic ...

https://en.wikipedia.org/wiki/List_of_genetic_disorders

The eye problems associated with the King Charles Spaniel include cataracts, corneal dystrophy, distichia, entropion, ... Other congenital and hereditary disorders found in the King Charles Spaniel are hanging tongue, where a neurological defect ... with ages of onset ranging from six months for cataracts to two to five years for corneal dystrophy. Heart conditions related ...

https://en.wikipedia.org/wiki/King_Charles_Spaniel

Hereditary choroidal dystrophy Choroideremia Dystrophy, choroidal (central areolar) (generalized) (peripapillary) Gyrate ... Corneal neovascularization (H18.5) Fuchs' dystrophy - cloudy morning vision (H18.6) Keratoconus - degenerative disease: the ... Hereditary retinal dystrophy (H35.5) Retinitis pigmentosa - genetic disorder; tunnel vision preceded by night-blindness (H35.6 ... Corneal ulcer / Corneal abrasion - loss of the surface epithelial layer of the eye's cornea (H16.1) Snow blindness / Arc eye - ...

https://en.wikipedia.org/wiki/Eye_disease

Congenital endothelial dystrophy type 2, a rare form of corneal dystrophy, is linked to mutations in SLC4A11 gene that encodes ... "Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)". Nature ...

https://en.wikipedia.org/wiki/Boron

2016), and lattice corneal dystrophy type I (LCDI) (Courtney et al. 2014). RNAi intersects with a number of other pathways; it ... Hereditary ATTR amyloidosis is caused by a fault or mutation in the transthyretin (TTR) gene which is inherited. Changing just ... Onpattro (patisiran) was approved for the treatment of polyneuropathy of hereditary transthyretin-mediated (hATTR) amyloidosis ... Traditionally, liver transplantation has been the standard treatment for hereditary transthyretin amyloidosis, however its ...

https://en.wikipedia.org/wiki/Small_interfering_RNA

Corneal dystrophy can also have a crystalline appearance. Corneal ulcer, or ulcerative keratitis, is an inflammatory condition ... Samoyed hereditary glomerulopathy (SHG) is an hereditary noninflammatory disease, of the renal glomeruli occurring in the ... Corneal diseases Corneal dystrophy is a condition characterized by bilateral, noninflammatory opacity of the cornea. It appears ... Other eye conditions can cause corneal ulcers, such as entropion, distichia, corneal dystrophy, and keratoconjunctivitis sicca ...

https://en.wikipedia.org/wiki/List_of_dog_diseases

... venous Angiomatosis systemic cystic seip syndrome Angiomyomatous hamartoma Angioneurotic edema hereditary due to C1 esterase ... juvenile Arthritis short stature deafness Arthrogryposis Arthrogryposis due to muscular dystrophy Arthrogryposis ectodermal ... Weyers type Acrofrontofacionasal dysostosis Acrokeratoelastoidosis of Costa Acromegaloid changes cutis verticis gyrata corneal ... yellow mutant type Albinoidism Albrecht-Schneider-Belmont syndrome Albright-Turner-Morgani syndrome Albright's hereditary ...

https://en.wikipedia.org/wiki/List_of_diseases_(A)

... syndrome Late onset dominant cone dystrophy Lateral body wall defect Laterality defects dominant Lattice corneal dystrophy type ... Lymphatic filariasis Lymphatic neoplasm Lymphedema distichiasis Lymphedema hereditary type 1 Lymphedema hereditary type 2 ... Limb scalp and skull defects Limb transversal defect cardiac anomaly Limb-body wall complex Limb-girdle muscular dystrophy ... syndrome Lamellar ichthyosis Lamellar recessive ichthyosis Landau-Kleffner syndrome Landouzy-Dejerine muscular dystrophy Landy- ...

https://en.wikipedia.org/wiki/List_of_diseases_(L)

2002). "Corneal endothelial degeneration in dentatorubral-pallidoluysian atrophy". Arch Neurol. 59 (2): 289-91. doi:10.1001/ ... 1998). "Hereditary dentatorubral-pallidoluysian atrophy: Detection of widespread ubiquitinated neuronal and glial intranuclear ... Neuroaxonal dystrophy, Gaucher's disease, Sialidosis, and Galactosialidosis should be considered.[citation needed] To quantify ... 1995). "Abnormal Gene Product Identified in Hereditary DRPLA Brain". Nat Genet. 10 (1): 99-103. doi:10.1038/ng0595-99. PMID ...

https://en.wikipedia.org/wiki/Dentatorubral–pallidoluysian_atrophy

If the development of the iris is hindered, the ectoderm of the eye (which forms the lens and corneal epithelium) may split, ... Polycoria has been linked to hereditary genetics, and also associated with polar cataracts, glaucoma, and retinal detachment. ... posterior polymorphous dystrophy, and juvenile glaucoma. Pseudopolycoria consists of splitting of the iris that are not ... Hypertonic saline solution used as eye drops may be used to reduce the corneal edema,[unreliable medical source?] the use of ...

https://en.wikipedia.org/wiki/Polycoria

Inclusion Criteria: Includes concepts that represent a diagnosis of hereditary corneal dystrophies, including congenital, ... epithelial/juvenile, granular, lattice or macular corneal dystrophies. ... The purpose of this value set is to represent concepts of a diagnosis of hereditary corneal dystrophies. Data Element Scope: ... Clinical Focus: The purpose of this value set is to represent concepts of a diagnosis of hereditary corneal dystrophies.. Data ...

https://ecqi.healthit.gov/mcw/2023/ecqm-dataelement/diagnosishereditarycornealdystrophies.html

Corneal Dystrophy, Juvenile Epithelial of Meesmann Keratin-4/deficiency Leukokeratosis, Hereditary Mucosal. ...

https://www.nlm.nih.gov/pubs/techbull/nd06/nd06_medline_data_changes2007.html

Meesmann corneal dystrophy is an eye disease that affects the cornea, which is the clear front covering of the eye. Explore ... Corneal dystrophy, juvenile epithelial of Meesmann. *Corneal dystrophy, Meesmann epithelial. *Juvenile hereditary epithelial ... medlineplus.gov/genetics/condition/meesmann-corneal-dystrophy/ Meesmann corneal dystrophy. ... Meesmann corneal dystrophy can result from mutations in either the KRT12 gene or the KRT3 gene. These genes provide ...

https://medlineplus.gov/genetics/condition/meesmann-corneal-dystrophy

... congenital corneal ectasia, congenital hereditary stromal dystrophy, posterior polymorphous dystrophy, and Fryns syndrome. ... Congenital hereditary endothelial dystrophy. Congenital hereditary endothelial dystrophy (CHED, formerly CHED2) is most likely ... Congenital hereditary stromal dystrophy. Congenital hereditary stromal dystrophy manifests neonatally with a diffuse clouding ... Causes of congenital corneal opacities may be classified as primary corneal disease or secondary corneal disease. Primary ...

http://emedicine.medscape.com/article/1197148-overview

90; was CORNEAL DYSTROPHIES 1963-89. Online Note. use CORNEAL DYSTROPHIES, HEREDITARY to search CORNEAL DYSTROPHIES 1966-89. ... Corneal Dystrophies Granular Dystrophy, Corneal Groenouws Dystrophies Macular Dystrophy, Corneal Stromal Dystrophies, Corneal ... Cone-Rod Dystrophies [C11.270.152] * Corneal Dystrophies, Hereditary [C11.270.162] * Corneal Dystrophy, Juvenile Epithelial of ... Corneal Diseases [C11.204] * Corneal Dystrophies, Hereditary [C11.204.236] * Corneal Dystrophy, Juvenile Epithelial of Meesmann ...

https://meshb.nlm.nih.gov/record/ui?ui=D003317

Mice with a targeted disruption of Slc4a11 model the progressive corneal changes of congenital hereditary endothelial dystrophy ... Mutations in the Corneal Endothelial Dystrophy-Associated Gene SLC4A11 Render the Cells More Vulnerable to Oxidative Insults. ... Corneal dystrophy-causing SLC4A11 mutants: suitability for folding-correction therapy.. Loganathan SK; Casey JR. Hum Mutat; ... 6. Energy Shortage in Human and Mouse Models of SLC4A11-Associated Corneal Endothelial Dystrophies.. Zhang W; Frausto R; Chung ...

https://pubmedhh.nlm.nih.gov/biomarkers/search.php?id=31254733&mod=related&page=1&outid=&proj=

Cone Rod Dystrophy, Congenital Stationary Night Blindness, Corneal Dystrophy, Juvenile X-linked Retinoschisis, Leber Hereditary ... Sorsby Fundus Dystrophy, Stickler Syndrome and Stargardt Disease, and Usher Syndrome. ... Optic Neuropathy (LHON), mitochondrial DNA disorders, Optic Atrophy Type 1, Pattern Dystrophy, PNPLA6 disorders, Retinitis ...

https://www.nei.nih.gov/research/research-labs-and-branches/ophthalmic-genomics-laboratory

Lebers hereditary optic neuropathy, familial exudative vitreoretinopathy and hereditary corneal dystrophies. ... His NIH-funded laboratory research focuses on the molecular genetics of the corneal dystrophies. ... Forster specializes in corneal diseases, corneal transplant surgery, anterior segment reconstruction and secondary intraocular ... where his focuses is corneal conditions, stem cell transplantation, corneal transplantation, cataract surgery, ocular surface ...

https://www.beckersasc.com/lists/135-leading-ophthalmologists-in-america.html

Epithelial corneal dystrophies. in, editor(s)Wang M, Flatten N , Cornea: Dystrophies and Degenerations: A Molecular Genetics ... Skin: Hereditary Disorders in, Cooper DN , Nature Encyclopaedia of the Human Genome, London., John Wiley and Sons Ltd, 2003, ... mutant keratin 12 allele in corneal limbal epithelial cells grown from patients with Meesmanns epithelial corneal dystrophy, ... s epithelial corneal dystrophy., Investigative ophthalmology & visual science, 55, (5), 2014, p3352-60 Journal Article, 2014 ...

https://www.tcd.ie/medicine/clinical-medicine/undergraduate/specialities/dermatology/IRVINEA

Dissertation: Fuchs endothelial corneal dystrophy : Genetic aetiology and as a risk factor in cataract surgery. ... Abstract: Fuchs endothelial corneal dystrophy (FECD) is a bilateral, often hereditary degenerative corneal disease, in which ... Fuchs endothelial corneal dystrophy : Genetic aetiology and as a risk factor in cataract surgery. ... The risk of corneal transplantation after cataract surgery in patients with corneal guttata was 68 times higher than in ...

https://www.dissertations.se/dissertation/df0a9ffe78/

https://meshb-prev.nlm.nih.gov/record/ui?ui=D003317

Lebers hereditary optic neuropathy), corneal ectasia; and others. AURA Biosciences Started in Cambridge in 2009 by CEO ... endothelial dystrophies; inherited retinal diseases (retinitis pigmentosa, Stargardts; Lebers congenital amaurosis; ...

https://www.reviewofophthalmology.com/article/the-eyes-the-window-to-the-soul-of-rd

Fuchs endothelial dystrophy. Fuchs endothelial dystrophy is a hereditary eye disease that affects the cornea and usually tends ... We often treat Fuchs Dystrophy and reduce corneal swelling through DSAEK, a corneal transplant that replaces the diseased ... What is corneal disease?. Our specialists understand and treat corneal conditions that affect how you see the world. ... What are the different types of Corneal Disease?. There are many different types of corneal disease but the three main types ...

https://oomc.com/canj/areas/corneal-disease/

Hereditary Tyrosinemia, Type II Keratosis Palmoplantaris with Corneal Dystrophy Oculocutaneous Type Tyrosinoses Oculocutaneous ... Hereditary Tyrosinemia Hereditary Tyrosinemias Hypertyrosinemia Tyrosinemia Tyrosinemia, Hereditary Tyrosinemias, Hereditary ... Hereditary Tyrosinemia. Hereditary Tyrosinemia, Type I. Hereditary Tyrosinemia, Type II. Hereditary Tyrosinemia, Type III. ... Keratosis Palmoplantaris with Corneal Dystrophy. Oculocutaneous Type Tyrosinoses. Oculocutaneous Type Tyrosinosis. Oregon Type ...

https://decs.bvsalud.org/en/ths/resource/?id=34235&filter=ths_exact_term&q=TIROSINEMIAS

Hereditary Nasal Parakeratosis: CLEAR. Macular Corneal Dystrophy: CLEAR. Progressive Retinal Atrophy, Progressive Rod-Cone ...

https://stormyriverretrievers.com/diva

Corneal Dystrophies, Hereditary 1 0 Coronary Artery Disease 1 0 Diabetes, Gestational 1 0 ...

https://phgkb.cdc.gov/PHGKB/huGEPedia.action?firstQuery=TGFA&geneID=7039&typeSubmit=GO&check=y&typeOption=gene&which=2&pubOrderType=pubD

Corneal Dystrophies, Hereditary 1 0 Psoriasis 1 0 Recurrence 1 0 Sarcoidosis 1 0 ...

https://phgkb.cdc.gov/PHGKB/huGEPedia.action?firstQuery=C4A&geneID=720&typeSubmit=GO&check=y&typeOption=gene&which=2&pubOrderType=pubD

Corneal dystrophies. *Keratoconus. Note: In adults, glaucoma and macular degeneration are among the leading causes of blindness ... The best way to protect a babys eyes from congenital or hereditary eye disease is through regular eye examinations. Certain ... Corneal abrasion: Corneal Abrasion can be quite painful. They can range from a minor superficial scratch to major corneal ... We, at Disha Eye Hospitals, have experienced eye doctors for the treatment of eye diseases such as cataracts, glaucoma, corneal ...

https://www.dishaeye.org/blog/tag/eye-specialist/

Macular Corneal Dystrophy - N/N - clear. Hereditary Elliptocytosis - N/N - clear. Hiplaxity I - Normal. Hiplaxity II - Normal ...

https://www.monte-gerass.com/labradorec-mladi%C4%8Dki-loveandjoy

Macular Corneal Dystrophy (Labrador Retriever Type). WT/WT. Normal (clear). Oct. 30, 2020. ... Hereditary Nasal Parakeratosis (Labrador Retriever Type). WT/WT. Normal (clear). Oct. 30, 2020. ... Progressive Retinal Atrophy, Cone-Rod Dystrophy 4. WT/WT. Normal (clear). Oct. 30, 2020. ...

https://www.pawprintgenetics.com/pedigrees/dogs/details/18133/

Microbial infections or corneal dystrophies causing corneal opacity were important causes of unilateral and bilateral blindness ... Hereditary retinal dystrophies remained one of the main causes of bilateral blindness and low vision. Again this can be ... Al-Akily S, Bamashmus M, Khalifa O. Graft survival and visual outcome of 70 corneal grafts in Yemeni patients. Saudi journal of ... Many children become blind from corneal opacity every year [14].. Preventable causes of blindness (e.g. trauma-related ...

https://www.emro.who.int/emhj-volume-16-2010/volume-16-issue-4/article-14.html

We evaluate the outcomes and complications of DMEK for an infant with congenital hereditary endothelial dystrophy. METHODS: A 3 ... The visual acuity, pachymetry, corneal transparency, and complications were assessed over 3 months of follow-up. RESULTS: At 3 ... Bilateral Descemet Membrane Endothelial Keratoplasty in an Infant With Congenital Hereditary Endothelial Dystrophy. ... old male infant with congenital hereditary endothelial dystrophy underwent unilateral DMEK, which was complicated by incomplete ...

https://pesquisa.bvsalud.org/portal/?lang=pt&q=au:Wu,+Frances

Corneal Diseases. *Corneal Dystrophies, Hereditary. *Corneal Edema. *Corneal Endothelial Cell Loss. *Corneal Neovascularization ... Brillouin Microscopy Visualizes Centralized Corneal Edema in Fuchs Endothelial Dystrophy. Cornea. 2020 Feb; 39(2):168-171. ... Corneal Edema and Keratoplasty: Risk Factors in Eyes With Previous Glaucoma Drainage Devices. Am J Ophthalmol. 2022 06; 238:27- ... "Corneal Edema" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical Subject ...

https://connects.catalyst.harvard.edu/Profiles/display/Concept/Corneal%20Edema

231942005 Corneal rust ring (disorder) 231931001 Stromal corneal dystrophy (disorder) 231925004 Arcus juvenilis (disorder) ... 74469006 Hereditary choroidal dystrophy (disorder) 74157006 Fibrosis due to any device, implant AND/OR graft (disorder) 7461003 ... 373431007 Corneal ghost vessels (finding) 373426005 Corneal epithelial and basement membrane dystrophy (disorder) 372097009 ... 32935005 Microscopic cystic corneal dystrophy (disorder) 32923006 Female pelvic peritonitis (disorder) 32919003 Fusion with ...

https://evs.nci.nih.gov/ftp1/FDA/ProblemList/Archive/ProblemListSubset_2006-04-02.txt

Macular Dystrophies, Corneal use Corneal Dystrophies, Hereditary Macular Dystrophies, Vitelliform use Vitelliform Macular ... Macular Dystrophy, Vitelliform use Vitelliform Macular Dystrophy Macular Dystrophy, Vitelliform, Adult-Onset use Vitelliform ... Macular Dystrophy, Best use Vitelliform Macular Dystrophy Macular Dystrophy, Corneal use Corneal Dystrophies, Hereditary ... Macular Degeneration, Polymorphic Vitelline use Vitelliform Macular Dystrophy Macular Degeneration, Wet use Wet Macular ...

https://decs.bvs.br/I/DeCS2016_Alfab-M.htm

Corneal dystrophy. Corneal dystrophy Trusted Source PubMed Central Archive of biomedical and life sciences journal literature. ... It is hereditary, but vets are able to make treatment options depending on which type of dystrophy youre dealing with. Huskies ... normally deal with the stromal classification of dystrophy, which doesnt typically require treatment unless the condition is ...

https://betterpet.com/siberian-husky/

... and corneal dystrophy, which is a hereditary condition. ...

https://www.scoutknows.com/best-dog-food-huskies/

Eye problems such as corneal dystrophy or juvenile cataract. *Allergies. Is Siberian Husky Dog Right For You?. Siberian husky ... The Siberian husky dog is a tough, hard-nosed breed, with some notable hereditary issues:. *Bloat, which can cause gastric ...

https://smarthuskies.com/siberian-husky-puppies/

Amyloidosis, Finnish type, see Lattice corneal dystrophy type II. *Amyloidosis, Meretoja type, see Lattice corneal dystrophy ... Autosomal dominant hereditary pancreatitis, see Hereditary pancreatitis. *Autosomal dominant hereditary sensory radicular ... Amyloid cranial neuropathy with lattice corneal dystrophy, see Lattice corneal dystrophy type II ... Albipunctate retinal dystrophy, see Fundus albipunctatus. *Albright hereditary osteodystrophy-like syndrome, see 2q37 deletion ...

https://ghr.nlm.nih.gov/condition

Other rarer causes of congenital clouding or opacity of the cornea include the following: corneal keloids, congenital corneal ectasia, congenital hereditary stromal dystrophy, posterior polymorphous dystrophy , and Fryns syndrome. (medscape.com)
Primary corneal disease is developmental and may be isolated to the cornea or have a related systemic component. (medscape.com)
Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. (nih.gov)
Dr. Aldave is director of the cornea service, the refractive surgery fellowship program and the Corneal Genetics Laboratory at Jules Stein Eye Institute. (beckersasc.com)
Fuchs endothelial dystrophy is a hereditary eye disease that affects the cornea and usually tends to show up later in life resulting in corneal swelling, sensitivity to light and blurry vision. (oomc.com)
We often treat Fuch's Dystrophy and reduce corneal swelling through DSAEK, a corneal transplant that replaces the diseased layer of the cornea with healthy, new cells. (oomc.com)
A corneal ulcer, or eyesore is an inflammatory or infective condition of the cornea. (definitivetestsite2.com)

What are the different types of Corneal Disease? (oomc.com)
There are many different types of corneal disease but the three main types are outlined below. (oomc.com)
If you'd like to learn more about the different types of corneal disease and their treatment options, visit the corneal treatment page on our parent website. (oomc.com)

Fuchs' endothelial corneal dystrophy (FECD) is a bilateral, often hereditary degenerative corneal disease, in which the disrupted endothelial cell function causes corneal swelling and reduced vision. (dissertations.se)
But sometimes, advanced problems like keratoconus, Fuchs endothelial dystrophy and dry eye syndrome call for additional consultation and treatment plans. (oomc.com)
Sometimes, the only choice for improved vision is a corneal transplant surgery, particularly when there's irreversible swelling from Fuchs' Dystrophy or after cataract surgery. (oomc.com)
Brillouin Microscopy Visualizes Centralized Corneal Edema in Fuchs Endothelial Dystrophy. (harvard.edu)
Fuchs' Dystrophy is a slowly progressing corneal disease that usually affects both eyes, occurring more often in women than in men. (definitivetestsite2.com)
Although doctors can often see early signs of Fuchs' Dystrophy in people in their 30s and 40s, the disease rarely affects vision until people reach their 50s and 60s. (definitivetestsite2.com)
A groundbreaking corneal study that investigated the genetics of Fuchs endothelial corneal dystrophy (FECD). (eyeconsultants.net)
This groundbreaking multicenter study investigated the long-term outcomes of partial thickness corneal transplants referred to as Descemet stripping endothelial keratoplasty (DSEK) in patients with Fuchs corneal dystrophy and bullous keratopathy. (eyeconsultants.net)

Still, the vast majority of FECD patients do not undergo a corneal transplant after cataract surgery. (dissertations.se)
With the development of new surgical techniques, instrumentation and pharmacological advances, corneal transplant procedures can undergo changes directly in the clinical profile of patients with the indication for penetrating keratoplasty technique. (bvsalud.org)
Deep ulcers may require conjunctival grafts or conjunctival flaps, soft contact lenses, or corneal transplant. (definitivetestsite2.com)
In cases where the vision cannot be improved with correction, or if contact lens use is not possible, a corneal transplant is an option. (definitivetestsite2.com)

10. Mitochondrial ROS Induced Lysosomal Dysfunction and Autophagy Impairment in an Animal Model of Congenital Hereditary Endothelial Dystrophy. (nih.gov)
12. Mutations in the Corneal Endothelial Dystrophy-Associated Gene SLC4A11 Render the Cells More Vulnerable to Oxidative Insults. (nih.gov)
15. Mice with a targeted disruption of Slc4a11 model the progressive corneal changes of congenital hereditary endothelial dystrophy. (nih.gov)
18. R125H, W240S, C386R, and V507I SLC4A11 mutations associated with corneal endothelial dystrophy affect the transporter function but not trafficking in PS120 cells. (nih.gov)
19. SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy. (nih.gov)

Secondary corneal disease may be developmental or acquired from metabolic diseases, trauma, or infections. (medscape.com)
16. Transmembrane water-flux through SLC4A11: a route defective in genetic corneal diseases. (nih.gov)
He completed his ophthalmology residency at California Pacific Medical Center in San Francisco and his fellowship in corneal and external diseases at the Bascom Palmer Eye Institute in Miami. (beckersasc.com)
Treatment for corneal diseases can vary, so we'll work together to determine what's most ideal, and better manage your vision. (oomc.com)
Diseases surgical technique developed since the start of the involving the corneal endothelium can be controlled twentieth century for the realization of corneal with endothelial or penetrating keratoplasties, and transplantation (CT). (bvsalud.org)
CT is the most common type those diseases that involve both the endothelium and of tissue transplantation made around the world, the corneal stroma generally require PK when there is substitution of all corneal layers (the (REINHART, 2011). (bvsalud.org)
This study is currently enrolling patients who have lost iris tissue from trauma or hereditary diseases with the presence of a cataract. (eyeconsultants.net)
This first groundbreaking multi-center study investigated the results of corneal transplants in patients with corneal diseases requiring surgery in the US. (eyeconsultants.net)
Disease-causing mutations are associated with many ocular diseases, including glaucoma, cataracts, strabismus, corneal dystrophies and a number of retinal degenerations. (nih.gov)

Central macular dystrophy is transmitted as an autosomal recessive defect. (nih.gov)

The Siberian Husky can develop hereditary or juvenile cataracts as early as three months of age. (bioluxmedical.com)
Hereditary or juvenile cataracts, corneal dystrophy and progressive retinal atrophy are the three eye circumstances of the Siberian Husky that try to be conscious of. (bioluxmedical.com)

Includes concepts that represent a diagnosis of hereditary corneal dystrophies, including congenital, epithelial/juvenile, granular, lattice or macular corneal dystrophies. (healthit.gov)

Causes of congenital corneal opacities may be classified as primary corneal disease or secondary corneal disease. (medscape.com)

Corneal collagen cross-linking (CXL) stops the progression of Keratoconus or Post-Lasik ectasia. (oomc.com)
Corneal transplants are generally highly successful after keratoconus, although contact lenses may sometimes still be needed to fully correct the vision. (definitivetestsite2.com)
This study analyzes outcomes of patients with keratoconus nearing the time for corneal transplantation. (eyeconsultants.net)
ECA is still taking patients desiring this procedure with keratoconus without the presence of corneal scarring. (eyeconsultants.net)

Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. (bvsalud.org)
They can also develop corneal dystrophy, which can cause compromised vision in addition to painful corneal ulcers and infections. (fetchpet.com)
Corneal ulcers are extremely painful due to nerve exposure, and can cause tearing, squinting, redness of the eye and vision loss. (definitivetestsite2.com)
Bacterial corneal ulcers require intensive antibiotic therapy. (definitivetestsite2.com)
Fungal corneal ulcers require intensive treatment with anti-fungal agents. (definitivetestsite2.com)
Viral corneal ulcers caused by herpes virus are treated with antivirals. (definitivetestsite2.com)

Huskies normally deal with the stromal classification of dystrophy, which doesn't typically require treatment unless the condition is severe. (betterpet.com)

This clouding is differentiated from primary congenital glaucoma (PCG) by the presence of periorbital soft tissue trauma, normal intraocular pressure (IOP), and the frequently vertical orientation of the Descemet membrane tears, and the absence of corneal enlargement, an abnormally deep anterior chamber, and an abnormal filtration angle. (medscape.com)
Corneal Edema and Keratoplasty: Risk Factors in Eyes With Previous Glaucoma Drainage Devices. (harvard.edu)
A Patient With Glaucoma With Corneal Edema. (harvard.edu)

The purpose of this value set is to represent concepts of a diagnosis of hereditary corneal dystrophies. (healthit.gov)

20. Inducible Slc4a11 Knockout Triggers Corneal Edema Through Perturbation of Corneal Endothelial Pump. (nih.gov)
Corneal Edema" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
This graph shows the total number of publications written about "Corneal Edema" by people in Harvard Catalyst Profiles by year, and whether "Corneal Edema" was a major or minor topic of these publication. (harvard.edu)
Below are the most recent publications written about "Corneal Edema" by people in Profiles. (harvard.edu)
Corneal Edema in a Gardener. (harvard.edu)

In Sweden and most Western countries, FECD is the most common indication for corneal transplantation. (dissertations.se)
We show that patients with corneal guttata/FECD benefit from cataract surgery with improved visual acuity and self-assessed visual function, but that they have a greater risk of corneal transplantation and worse results of the cataract surgery than patients without FECD. (dissertations.se)
The risk of corneal transplantation after cataract surgery in patients with corneal guttata was 68 times higher than in patients without corneal guttata. (dissertations.se)
Complicated cataract surgery with a dense lens and posterior capsule rupture, both individually and together, increased the risk of corneal transplantation, independent of corneal guttata. (dissertations.se)
It is not surprising that the risk of corneal transplantation after cataract surgery is increased in patients with FECD, as FECD is an indication for corneal transplantation. (dissertations.se)
With the results of this thesis as a basis, we recommend, to start with cataract surgery before planning for corneal transplantation in most cases of FECD. (dissertations.se)
Corneal transplantation. (bvsalud.org)

Breaks in the Descemet membrane should be identified and differentiated from other abnormalities, such as the more vertically oriented defects seen after forceps-induced birth trauma or the irregularly scattered defects seen with posterior polymorphous dystrophy. (medscape.com)

Hereditary gelsolin (AGel) amyloidosis is an autosomal dominantly inherited systemic amyloidosis that manifests with the characteristic triad of progressive ophthalmological, neurological and dermatological signs and symptoms. (biomedcentral.com)

2. Mitochondrial Targeting of the Ammonia-Sensitive Uncoupler SLC4A11 by the Chaperone-Mediated Carrier Pathway in Corneal Endothelium. (nih.gov)
3. Glutaminolysis is Essential for Energy Production and Ion Transport in Human Corneal Endothelium. (nih.gov)

An early clinical sign of FECD is corneal guttata, an irregularity of the endothelial layer. (dissertations.se)

Further, we studied the impact of corneal guttata on cataract surgery outcome, using the data from nationwide eye registries. (dissertations.se)

HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (lookformedical.com)

The opacification affects the full thickness stroma and limits visualization of the posterior corneal surface and of the intraocular structures. (medscape.com)

The implant is placed in the eye at the time of surgical removal of the cataract and may be performed with corneal transplants in eyes that have concurrent corneal damage from trauma or hereditary causes. (eyeconsultants.net)

Asymmetries in the topography and refractive index of the corneal surface that affect visual acuity. (sdsu.edu)

What is corneal disease? (oomc.com)
When treating your specific corneal disease, there are options available. (oomc.com)
Hereditary gingival fibromatosis is a rare disease (1 in 750,000) and belongs to a group of benign disorders characterized by firm, enlarged gingival tissues that cover most of the anatomic crowns. (bvsalud.org)

His NIH-funded laboratory research focuses on the molecular genetics of the corneal dystrophies. (beckersasc.com)

The present case report depicts one of the unusual presentations of hereditary gingival fibromatosis which was associated with massive destruction of periodontal tissues and deals with the management employing a novel surgical procedure. (bvsalud.org)

It is hereditary, but vets are able to make treatment options depending on which type of dystrophy you're dealing with. (betterpet.com)

According to Dr. Kelly, some common health problems in Huskies include obesity, hypothyroidism and several hereditary eye issues . (fetchpet.com)

Conclusion: Hereditary gingival fibromatosis stands apart from other gingival enlargements in the varied treatment options available and the nature of recurrence post treatment. (bvsalud.org)

On clinical evaluation, patients with partial sclerocornea have a peripheral, white, vascularized, 1- to 2-mm corneal rim that blends with the sclera, obliterating the limbus. (medscape.com)

Introduction: Hereditary gingival fibromatosis (HGF) is a rare condition presenting varied degrees of gingival enlargement. (bvsalud.org)

When recommending treatment for your corneal condition, there are options available. (oomc.com)
HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). (lookformedical.com)

Our specialists understand and treat corneal conditions that affect how you see the world. (oomc.com)

Histological features of hereditary gingival fibromatosis are non specific. (bvsalud.org)

Corneal dystrophy Trusted Source PubMed Central Archive of biomedical and life sciences journal literature. (betterpet.com)

There is no known cause of the disorder, and there is no clear hereditary pattern in most cases. (definitivetestsite2.com)

Children with Vitamin A deficiency are at high risk for corneal ulcer and may become blind in both eyes. (definitivetestsite2.com)

Anatomy10

Organisms1

Diseases21

Chemicals and Drugs20

Analytical, Diagnostic and Therapeutic Techniques and Equipment13

Psychiatry and Psychology2

Phenomena and Processes20

Anthropology, Education, Sociology and Social Phenomena1

Information Science3

Named Groups1

Geographicals1

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. (1/312)

Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct. (2/312)

On the role of kerato-epithelin in the pathogenesis of 5q31-linked corneal dystrophies. (3/312)

Apolipoproteins J and E co-localise with amyloid in gelatinous drop-like and lattice type I corneal dystrophies. (4/312)

Corneal guttata associated with the corneal dystrophy resulting from a betaig-h3 R124H mutation. (5/312)

Acute hydrops in the corneal ectasias: associated factors and outcomes. (6/312)

Ultrastructural localization of sulfated and unsulfated keratan sulfate in normal and macular corneal dystrophy type I. (7/312)

Late onset lattice corneal dystrophy with systemic familial amyloidosis, amyloidosis V, in an English family. (8/312)

No images available that match "corneal dystrophies hereditary"

Corneal Dystrophies, Hereditary

Fuchs' Endothelial Dystrophy

Corneal Dystrophy, Juvenile Epithelial of Meesmann

Muscular Dystrophies

Collagen Type VIII

Myotonic Dystrophy

Cornea

Muscular Dystrophy, Duchenne

Corneal Opacity

Pedigree

Descemet Membrane

Keratin-12

Extracellular Matrix Proteins

Bowman Membrane

Muscular Dystrophy, Animal

Endothelium, Corneal

Keratoplasty, Penetrating

Keratoconus

Keratan Sulfate

Amyloidosis, Familial

Corneal Stroma

DNA Mutational Analysis

Corneal Transplantation

Mutation

Current Procedural Terminology

Retinal Dystrophies

Corneal Pachymetry

Dimethylallyltranstransferase

Transforming Growth Factor beta

Muscular Dystrophy, Facioscapulohumeral

Corneal Diseases

Keratin-3

Dystrophin

Mutation, Missense

Exons

Sulfotransferases

Heterozygote

Chromosomes, Human, Pair 5

Epithelium, Corneal

Phenotype

Photorefractive Keratectomy

Corneal Edema

Corneal Keratocytes

Lasers, Excimer

Muscular Dystrophy, Emery-Dreifuss

Genes, Dominant

Mice, Inbred mdx

Genetic Linkage

Eye Proteins

Homozygote

Neuroaxonal Dystrophies

Base Sequence

Chromosomes, Human, Pair 20

Amyloidosis

Sarcoglycans

Polymerase Chain Reaction

Corneal Topography

Molecular Sequence Data

Asian Continental Ancestry Group

Visual Acuity

Microscopy, Confocal

Anion Transport Proteins

Amino Acid Substitution

Point Mutation

Transforming Growth Factor beta1

Muscular Dystrophy, Oculopharyngeal

Consanguinity

Dystroglycans

Czech Republic

Reflex Sympathetic Dystrophy

Genetic Heterogeneity

Frameshift Mutation

Polymorphism, Single-Stranded Conformational

Genetic Association Studies

Utrophin

Vitelliform Macular Dystrophy

Arcus Senilis

Amyloid

Haplotypes

Muscle, Skeletal