Corneal Dystrophy, Juvenile Epithelial of Meesmann: 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.Corneal Dystrophies, Hereditary: 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.Keratin-12: 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.Fuchs' Endothelial Dystrophy: 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.Muscular Dystrophies: 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.Collagen Type VIII: 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.Myotonic Dystrophy: 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.Cornea: 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)Muscular Dystrophy, Duchenne: 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)Corneal Opacity: Disorder occurring in the central or peripheral area of the cornea. The usual degree of transparency becomes relatively opaque.Pedigree: 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.Descemet Membrane: 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.Extracellular Matrix Proteins: 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).Bowman Membrane: 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.Muscular Dystrophy, AnimalEndothelium, Corneal: Single layer of large flattened cells covering the surface of the cornea.Keratoplasty, Penetrating: Partial or total replacement of all layers of a central portion of the cornea.Keratoconus: 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)Keratan Sulfate: 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.Amyloidosis, Familial: Diseases in which there is a familial pattern of AMYLOIDOSIS.Corneal Stroma: The lamellated connective tissue constituting the thickest layer of the cornea between the Bowman and Descemet membranes.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Corneal Transplantation: Partial or total replacement of the CORNEA from one human or animal to another.Mutation: 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.Current Procedural Terminology: 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).Retinal Dystrophies: 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.Corneal Pachymetry: Measurement of the thickness of the CORNEA.Dimethylallyltranstransferase: 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.Transforming Growth Factor beta: 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.Muscular Dystrophy, Facioscapulohumeral: 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)Corneal Diseases: Diseases of the cornea.Keratin-3: 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.Dystrophin: 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.Mutation, Missense: 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)Exons: 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.Sulfotransferases: 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.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Chromosomes, Human, Pair 5: One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).Centrosome: The cell center, consisting of a pair of CENTRIOLES surrounded by a cloud of amorphous material called the pericentriolar region. During interphase, the centrosome nucleates microtubule outgrowth. The centrosome duplicates and, during mitosis, separates to form the two poles of the mitotic spindle (MITOTIC SPINDLE APPARATUS).Search Engine: Software used to locate data or information stored in machine-readable form locally or at a distance such as an INTERNET site.Databases, Genetic: Databases devoted to knowledge about specific genes and gene products.Genome, Human: The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.Centrioles: Self-replicating, short, fibrous, rod-shaped organelles. Each centriole is a short cylinder containing nine pairs of peripheral microtubules, arranged so as to form the wall of the cylinder.Epidermolysis Bullosa Simplex: A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations in the genes that encode KERATIN-5 and KERATIN-14 have been associated with several subtypes of epidermolysis bullosa simplex.Epidermolysis Bullosa: Group of genetically determined disorders characterized by the blistering of skin and mucosae. There are four major forms: acquired, simple, junctional, and dystrophic. Each of the latter three has several varieties.Epidermolysis Bullosa Dystrophica: Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS.Epidermolysis Bullosa, Junctional: Form of epidermolysis bullosa having onset at birth or during the neonatal period and transmitted through autosomal recessive inheritance. It is characterized by generalized blister formation, extensive denudation, and separation and cleavage of the basal cell plasma membranes from the basement membrane.Collagen Type VII: A non-fibrillar collagen involved in anchoring the epidermal BASEMENT MEMBRANE to underlying tissue. It is a homotrimer comprised of C-terminal and N-terminal globular domains connected by a central triple-helical region.Peptides: Members of the class of compounds composed of AMINO ACIDS joined together by peptide bonds between adjacent amino acids into linear, branched or cyclical structures. OLIGOPEPTIDES are composed of approximately 2-12 amino acids. Polypeptides are composed of approximately 13 or more amino acids. PROTEINS are linear polypeptides that are normally synthesized on RIBOSOMES.Recombinant Proteins: Proteins prepared by recombinant DNA technology.Molecular Sequence Data: 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.Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Peptide Fragments: Partial proteins formed by partial hydrolysis of complete proteins or generated through PROTEIN ENGINEERING techniques.Encyclopedias as Topic: Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)Ophthalmology: A surgical specialty concerned with the structure and function of the eye and the medical and surgical treatment of its defects and diseases.Famous PersonsFloridaHistory, 19th Century: Time period from 1801 through 1900 of the common era.History, 17th Century: Time period from 1601 through 1700 of the common era.Accreditation: Certification as complying with a standard set by non-governmental organizations, applied for by institutions, programs, and facilities on a voluntary basis.Education, Medical: Use for general articles concerning medical education.Education, Medical, Graduate: Educational programs for medical graduates entering a specialty. They include formal specialty training as well as academic work in the clinical and basic medical sciences, and may lead to board certification or an advanced medical degree.Internship and Residency: Programs of training in medicine and medical specialties offered by hospitals for graduates of medicine to meet the requirements established by accrediting authorities.Pacinian Corpuscles: Rapidly adapting mechanoreceptors found in subcutaneous tissue beneath both hairy and glabrous skin. Pacinian corpuscles contain an afferent nerve fiber surrounded by a capsule with multiple concentric layers. They have large receptive fields and are most sensitive to high-frequency stimuli, such as vibration.Dictionaries, MedicalDictionaries as Topic: Lists of words, usually in alphabetical order, giving information about form, pronunciation, etymology, grammar, and meaning.Mechanoreceptors: Cells specialized to transduce mechanical stimuli and relay that information centrally in the nervous system. Mechanoreceptor cells include the INNER EAR hair cells, which mediate hearing and balance, and the various somatosensory receptors, often with non-neural accessory structures.Sebaceous Glands: Small, sacculated organs found within the DERMIS. Each gland has a single duct that emerges from a cluster of oval alveoli. Each alveolus consists of a transparent BASEMENT MEMBRANE enclosing epithelial cells. The ducts from most sebaceous glands open into a HAIR FOLLICLE, but some open on the general surface of the SKIN. Sebaceous glands secrete SEBUM.Integumentary System: The outer covering of the body composed of the SKIN and the skin appendages, which are the HAIR, the NAILS; and the SEBACEOUS GLANDS and the SWEAT GLANDS and their ducts.Hair Follicle: A tube-like invagination of the EPIDERMIS from which the hair shaft develops and into which SEBACEOUS GLANDS open. The hair follicle is lined by a cellular inner and outer root sheath of epidermal origin and is invested with a fibrous sheath derived from the dermis. (Stedman, 26th ed) Follicles of very long hairs extend into the subcutaneous layer of tissue under the SKIN.Skin: The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.Corneal Neovascularization: New blood vessels originating from the corneal veins and extending from the limbus into the adjacent CORNEAL STROMA. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as TRACHOMA, viral interstitial KERATITIS, microbial KERATOCONJUNCTIVITIS, and the immune response elicited by CORNEAL TRANSPLANTATION.Cadherins: Calcium-dependent cell adhesion proteins. They are important in the formation of ADHERENS JUNCTIONS between cells. Cadherins are classified by their distinct immunological and tissue specificities, either by letters (E- for epithelial, N- for neural, and P- for placental cadherins) or by numbers (cadherin-12 or N-cadherin 2 for brain-cadherin). Cadherins promote cell adhesion via a homophilic mechanism as in the construction of tissues and of the whole animal body.Epithelial Cells: Cells that line the inner and outer surfaces of the body by forming cellular layers (EPITHELIUM) or masses. Epithelial cells lining the SKIN; the MOUTH; the NOSE; and the ANAL CANAL derive from ectoderm; those lining the RESPIRATORY SYSTEM and the DIGESTIVE SYSTEM derive from endoderm; others (CARDIOVASCULAR SYSTEM and LYMPHATIC SYSTEM) derive from mesoderm. Epithelial cells can be classified mainly by cell shape and function into squamous, glandular and transitional epithelial cells.Information Centers: Facilities for collecting and organizing information. They may be specialized by subject field, type of source material, persons served, location, or type of services.National Health Planning Information Center (U.S.): A center in the HEALTH RESOURCES ADMINISTRATION Division of Planning Methods and Technology which provides access to current information on health planning and resources development.Rare Diseases: A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.Poison Control Centers: Facilities which provide information concerning poisons and treatment of poisoning in emergencies.Internet: A loose confederation of computer communication networks around the world. The networks that make up the Internet are connected through several backbone networks. The Internet grew out of the US Government ARPAnet project and was designed to facilitate information exchange.International Classification of Diseases: A system of categories to which morbid entries are assigned according to established criteria. Included is the entire range of conditions in a manageable number of categories, grouped to facilitate mortality reporting. It is produced by the World Health Organization (From ICD-10, p1). The Clinical Modifications, produced by the UNITED STATES DEPT. OF HEALTH AND HUMAN SERVICES, are larger extensions used for morbidity and general epidemiological purposes, primarily in the U.S.Eye Diseases: Diseases affecting the eye.Eye: The organ of sight constituting a pair of globular organs made up of a three-layered roughly spherical structure specialized for receiving and responding to light.World Health Organization: A specialized agency of the United Nations designed as a coordinating authority on international health work; its aim is to promote the attainment of the highest possible level of health by all peoples.Dry Eye Syndromes: Corneal and conjunctival dryness due to deficient tear production, predominantly in menopausal and post-menopausal women. Filamentary keratitis or erosion of the conjunctival and corneal epithelium may be caused by these disorders. Sensation of the presence of a foreign body in the eye and burning of the eyes may occur.Nevus: A circumscribed stable malformation of the skin and occasionally of the oral mucosa, which is not due to external causes and therefore presumed to be of hereditary origin.Choroid Neoplasms: Tumors of the choroid; most common intraocular tumors are malignant melanomas of the choroid. These usually occur after puberty and increase in incidence with advancing age. Most malignant melanomas of the uveal tract develop from benign melanomas (nevi).Blood-Aqueous Barrier: The selectively permeable barrier, in the EYE, formed by the nonpigmented layer of the EPITHELIUM of the CILIARY BODY, and the ENDOTHELIUM of the BLOOD VESSELS of the IRIS. TIGHT JUNCTIONS joining adjacent cells keep the barrier between cells continuous.Iris Neoplasms: Tumors of the iris characterized by increased pigmentation of melanocytes. Iris nevi are composed of proliferated melanocytes and are associated with neurofibromatosis and malignant melanoma of the choroid and ciliary body. Malignant melanoma of the iris often originates from preexisting nevi.

A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy. (1/5)

PURPOSE: To determine if a mutation within the coding region of the keratin 12 gene (KRT12) is responsible for a severe form of Meesmann's corneal dystrophy. METHODS: A family with clinically identified Meesmann's corneal dystrophy was recruited and studied. Electron microscopy was performed on scrapings of corneal epithelial cells from the proband. Mutations in the KRT12 gene were sought using direct genomic sequencing of leukocyte DNA from two affected and two unaffected family members. Subsequently, the observed mutation was screened in all available family members using polymerase chain reaction and direct sequencing. RESULTS: A heterozygous missense mutation (Arg430Pro) was found in exon 6 of KRT12 in all 14 affected individuals studied. Unaffected family members and 100 normal controls were negative for this mutation. CONCLUSIONS: We have identified a novel mutation in the KRT12 gene that is associated with a symptomatic phenotype of Meesmann's corneal dystrophy. This mutation results in a substitution of proline for arginine in the helix termination motif that may disrupt the normal helix, leading to a dramatic structural change of the keratin 12 protein.  (+info)

Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation. (2/5)

PURPOSE: Juvenile epithelial corneal dystrophy of Meesmann (MCD, OMIM 122100) is a dominantly inherited disorder characterized by fragility of the anterior corneal epithelium and intraepithelial microcyst formation. Although the disease is generally mild and affected individuals are often asymptomatic, some suffer from recurrent erosions leading to lacrimation, photophobia, and deterioration in visual acuity. MCD is caused by mutations in keratin 3 (KRT3) or keratin 12 (KRT12) genes, which encode cornea-specific cytoskeletal proteins. Seventeen mutations in KRT12 and two in KRT3 have been described so far. The purpose of this study was to investigate the genetic background of MCD in a Polish family. METHODS: We report on a three-generation family with MCD. Epithelial lesions characteristic for MCD were visualized with slit-lamp examination and confirmed by in vivo confocal microscopy. Using genomic DNA as a template, all coding regions of KRT3 and KRT12 were amplified and sequenced. Presence of the mutation was verified with restriction endonuclease digestion. RESULTS: In the proband, direct sequencing of the polymerase chain reaction (PCR) product from amplified coding regions of KRT3 and KRT12 revealed a novel 1493A>T heterozygous missense mutation in exon 7 of KRT3, which predicts the substitution of glutamic acid for valine at codon 498 (E498V). Using PCR-Restriction Fragment Length Polymorphism (RFLP) analysis, the mutation was demonstrated to segregate with the disease (four affected members, three non-affected) and to be absent in 100 controls from the Polish population, indicating that it is not a common polymorphism. CONCLUSIONS: Location of the E498V mutation emphasizes the functional relevance of the highly conserved boundary motifs at the COOH-terminus of the alpha-helical rod domain in keratin 3 (K3).  (+info)

Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy. (3/5)

 (+info)

Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12. (4/5)

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Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy. (5/5)

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*Corneal dystrophy

... dystrophy Meesmann juvenile epithelial corneal dystrophy Gelatinous drop-like corneal dystrophy Lisch epithelial corneal ... mucinous corneal dystrophy Meesmann corneal dystrophy Lisch epithelial corneal dystrophy Gelatinous drop-like corneal dystrophy ... Lattice corneal dystrophy Granular corneal dystrophy Macular corneal dystrophy Schnyder crystalline corneal dystrophy ... epithelial basement membrane dystrophy, Reis-Bucklers corneal dystrophy, and Thiel-Behnke dystrophy. Corneal dystrophies may ...

*List of cutaneous conditions

Meesmann corneal dystrophy Paraneoplastic keratoderma Pityriasis rosea (pityriasis rosea Gibert) Pityriasis rubra pilaris ( ... benign juvenile melanoma, epithelioid and spindle cell nevus, Spitz's juvenile melanoma) Solar lentigo (lentigo senilis, liver ... ISBN 0-7817-4088-6. McLean WH; Epithelial Genetics, Group (2003). "Genetic disorders of palm skin and nail". J Anat. 202 (1): ... Median nail dystrophy (dystrophia unguis mediana canaliformis, median canaliform dystrophy of Heller, solenonychia) Mees' lines ...

*List of OMIM disorder codes

SUFU Meesmann corneal dystrophy; 122100; KRT12 Meesmann corneal dystrophy; 122100; KRT3 Megalencephalic leukoencephalopathy ... DCN Corneal dystrophy, crystalline, of Schnyder; 121800; UBIAD1 Corneal dystrophy, epithelial basement membrane; 121820; TGFBI ... juvenile myelomonocytic; 607785; ARHGAP26 Leukemia, juvenile myelomonocytic; 607785; NF1 Leukemia, juvenile myelomonocytic; ... VSX1 Corneal dystrophy, lattice type I; 122200; TGFBI Corneal dystrophy, lattice type IIIA; 608471; TGFBI Corneal dystrophy, ...
do not let anyone or anything distract you from the shaman dance! Let yourself go and do not stop until we have reached the end of the journey ...
At least three mutations in the KRT3 gene have been found to cause Meesmann corneal dystrophy, an eye disease characterized by the formation of tiny cysts in the corneal epithelium.. All of the identified KRT3 gene mutations associated with Meesmann corneal dystrophy change single protein building blocks (amino acids) in the keratin 3 protein. These changes occur in a region of the protein that is critical for the formation and stability of intermediate filaments. The altered keratin 3 protein interferes with the assembly of intermediate filaments, weakening the structural framework of the corneal epithelium. As a result, this outer layer of the cornea is abnormally fragile and develops the cysts that characterize Meesmann corneal dystrophy. The cysts likely contain clumps of abnormal keratin proteins and other cellular debris. When the cysts break open (rupture), they cause eye irritation, increased sensitivity to light (photophobia), and related symptoms. ...
Diagnosis can be established on clinical grounds and this may be enhanced with studies on surgically excised corneal tissue and in some cases with molecular genetic analyses. As clinical manifestations widely vary with the different entities, corneal dystrophies should be suspected when corneal transparency is lost or corneal opacities occur spontaneously, particularly in both corneas, and especially in the presence of a positive family history or in the offspring of consanguineous parents.. Superficial corneal dystrophies - Meesmann dystrophy is characterized by distinct tiny bubble-like, punctate opacities that form in the central corneal epithelium and to a lesser extent in the peripheral cornea of both eyes during infancy that persists throughout life. Symmetrical reticular opacities form in the superficial central cornea of both eyes at about 4-5 years of age in Reis-Bücklers corneal dystrophy. Patient remains asymptomatic until epithelial erosions precipitate acute episodes of ocular ...
Diagnosis can be established on clinical grounds and this may be enhanced with studies on surgically excised corneal tissue and in some cases with molecular genetic analyses. As clinical manifestations widely vary with the different entities, corneal dystrophies should be suspected when corneal transparency is lost or corneal opacities occur spontaneously, particularly in both corneas, and especially in the presence of a positive family history or in the offspring of consanguineous parents.. Superficial corneal dystrophies - Meesmann dystrophy is characterized by distinct tiny bubble-like, punctate opacities that form in the central corneal epithelium and to a lesser extent in the peripheral cornea of both eyes during infancy that persists throughout life. Symmetrical reticular opacities form in the superficial central cornea of both eyes at about 4-5 years of age in Reis-Bücklers corneal dystrophy. Patient remains asymptomatic until epithelial erosions precipitate acute episodes of ocular ...
Corneal dystrophy comes in more than 20 types and occurs when material piles up in at least one of the five layers of the cornea. Corneal dystrophy can cause the cornea to lose its clarity, with the...
PURPOSE: To report the presence of the R124H mutation in two Spanish families with Avellino corneal dystrophy (ACD). METHODS: Two families with subjects who presented biomicroscopic features of ACD were included in this study. They have no relatives
Imagine a world without mental illness. NARSAD believes such a reality is possible and works every day to try to attain it.. How does NARSAD expect to achieve this vision? With a unique approach that relies on science. First, NARSAD invests in the best and brightest scientific minds throughout the world to unravel the complexities of schizophrenia, depression, anxiety and many other psychiatric diseases. Then, NARSAD continues to support the researchers as they use their findings to develop the next-generation of diagnostics and treatments for these conditions. With enough effort, NARSAD expects scientists someday to discover preventions and cures for these devastating illnesses.. For the past 22 years, with the help of thousands of donors, NARSAD has given over $238 million and 3,516 grants to researchers who have helped pioneer breakthroughs in deciphering how the brain develops, how its component parts act and how this key organ may differ in people with mental illness. Their efforts have led ...
Purpose: : To assess the long term sequelae, principally time-to-first-recurrence, of phototherapeutic keratectomy (PTK) for the treatment of recurrent corneal erosion syndrome (RCES). Methods: : A retrospective case series was performed. Thirty-nine eyes in 33 patients with RCES required PTK and were treated using the VISX STAR Excimer Laser System. The data was analyzed with the Kaplan Meier survival estimate. Results: : Patients were characterized by the cause of their RCES. Over 50% had epithelial corneal dystrophies, 31% were post-traumatic, and 15% were idiopathic. Overall, 25% of eyes had a recurrence by 3 months, 36% had a recurrence by 9 months, and the 50% recurrence rate was not observed in our study follow-up period. The mean follow-up time was 17.4 months. Of those who had a primary recurrence, 38% had a second and 15% had a third. Visual acuity was slightly decreased within the 2 weeks following surgery, and 10% of patients developed transient haze. No serious adverse effects were ...
Looking for information on Dog Corneal Dystrophy (Corneal Opacities) in Manchester? We have compiled a list of businesses and services around Manchester that should help you with your search. We hope this page helps you find information on Dog Corneal Dystrophy (Corneal Opacities) in Manchester.
Your cornea is the clear part of the front of the eye. Corneal dystrophies are common genetic conditions which cause changes to your cornea without any inflammation, infection or other eye disease. Corneal dystrophies affect the clearness of your cornea and usually involve both eyes. Although they can often get worse over time, normally this happens very slowly. Many corneal dystrophies develop so slowly that they may never get to a point where they affect your vision.
Looking for information on Dog Corneal Dystrophy (Corneal Opacities) in Stamford? We have compiled a list of businesses and services around Stamford that should help you with your search. We hope this page helps you find information on Dog Corneal Dystrophy (Corneal Opacities) in Stamford.
Do You Have Corneal Dystrophy, Fuchs Endothelial, 1? Join friendly people sharing true stories in the I Have Corneal Dystrophy, Fuchs Endothelial, 1 group. Find support forums, advice and chat with groups who share this life experience. A Corneal D...
Schematic of proposed mechanism of TGFBI-related corneal dystrophies in present study. The hypothesis of pathogenesis of TGFBI-related corneal dystrophies mainl
MalaCards based summary : Corneal Dystrophy, Thiel-Behnke Type, also known as thiel-behnke corneal dystrophy, is related to corneal dystrophy, avellino type and epithelial basement membrane dystrophy, and has symptoms including photophobia, corneal dystrophy and corneal scarring. An important gene associated with Corneal Dystrophy, Thiel-Behnke Type is TGFBI (Transforming Growth Factor Beta Induced). Affiliated tissues include eye, and related phenotypes are Increased cilium length after serum starvation and vision/eye ...
Mutations in human and/or mouse homologs are associated with this disease. Synonyms: FCD; Francois-Neetens speckled corneal dystrophy
Schnyder crystalline corneal dystrophy (SCCD, MIM 121800) is a rare autosomal dominant disease characterized by progressive opacification of the cornea resulting from the local accumulation of lipids, and associated in some cases with systemic dyslip
Definition of central crystalline corneal dystrophy of Snyder. Provided by Stedmans medical dictionary and Drugs.com. Includes medical terms and definitions.
Diagnosis Code 371.50 information, including descriptions, synonyms, code edits, ICD-10 conversion and references to the diseases index.
Quiet session this month, possibly because of it being busy with the recent ARVO meeting, the ECVO meeting, and the upcoming RCOphth Congress. Still, we chatted about a fair range of eye pathology topics yesterday, from rare corneal dystrophies to ocular trauma to the value of deeper sections. Here are a few of the cases…
Corneal dystrophy and perceptive deafness is a rare autosomal recessive disease which is caused by pathogenic variants in the gene SLC4A11. It has been reported across multiple ethnicities. Clinical features include corneal clouding that is present from birth or early infancy, and progressive hearing loss that develops between late childhood and early adulthood. Some patients will not develop hearing loss. At the moment, it is not known why some patients develop hearing loss and others do not. Life expectancy is not affected. For information about carrier frequency and residual risk, please see the Expanded Carrier Screen brochure.. ...
Respected Sir/Madam, I am suffering from Eye redness with multiple white spots in my cornea. Doctor suggest me Lotepred eye drop(Loteprednol Etabonate Ophthalmic Suspension--0.2%w/v sterile eye drop )...
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Signs of Corneal dystrophy - ichthyosis - microcephaly - mental retardation including medical signs and symptoms of Corneal dystrophy - ichthyosis - microcephaly - mental retardation, symptoms, misdiagnosis, tests, common medical issues, duration, and the correct diagnosis for Corneal dystrophy - ichthyosis - microcephaly - mental retardation signs or Corneal dystrophy - ichthyosis - microcephaly - mental retardation symptoms.

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... also abbreviated MCD and known as juvenile epithelial corneal dystrophy of Meesmann. MECD is an autosomal dominant disease that ... Defects in KRT12 are a cause of Meesmann corneal dystrophy (MECD) [MIM:122100]; ... May play a unique role in maintaining the normal corneal epithelial function. Together with KRT3, essential for the maintenance ... WNT7A and PAX6 define corneal epithelium homeostasis and pathogenesis.. Nature 511:358-61 (2014). Read more (PubMed: 25030175 ...
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Recombinant Anti-Keratin 12/K12 antibody [EPR1609(2)] (ab124975) | AbcamRecombinant Anti-Keratin 12/K12 antibody [EPR1609(2)] (ab124975) | Abcam

... also abbreviated MCD and known as juvenile epithelial corneal dystrophy of Meesmann. MECD is an autosomal dominant disease that ... Defects in KRT12 are a cause of Meesmann corneal dystrophy (MECD) [MIM:122100]; ... May play a unique role in maintaining the normal corneal epithelial function. Together with KRT3, essential for the maintenance ... WNT7A and PAX6 define corneal epithelium homeostasis and pathogenesis.. Nature 511:358-61 (2014). Read more (PubMed: 25030175 ...
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Juvenile epithelial degeneration of the cornea | definition of juvenile epithelial degeneration of the cornea by Medical...Juvenile epithelial degeneration of the cornea | definition of juvenile epithelial degeneration of the cornea by Medical...

What is juvenile epithelial degeneration of the cornea? Meaning of juvenile epithelial degeneration of the cornea medical term ... What does juvenile epithelial degeneration of the cornea mean? ... juvenile epithelial degeneration of the cornea explanation free ... Looking for online definition of juvenile epithelial degeneration of the cornea in the Medical Dictionary? ... Meesmann corneal dystrophy. (redirected from juvenile epithelial degeneration of the cornea) Meesmann corneal dystrophy. An ...
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Cornea | Meesmanns Dystrophy | National Eye InstituteCornea | Meesmann's Dystrophy | National Eye Institute

Meesmann�s Dystrophy http://rarediseases.info.nih.gov/GARD/Condition/9688/Meesmann_corneal_dystrophy.aspx ... Meesmanns dystrophy is a non-progressive early childhood disorder of the cornea. Treatment is usually unnecessary. Currently, ... Online Mendelian Inheritance in Man, Corneal Dystrophy, Juvenile Epithelial, of Meesmann. http://omim.org/entry/122100. For ... Cornea , Meesmanns Dystrophy. Submitted by admin on 04/05/10 Meesmanns dystrophy is a non-progressive early childhood ...
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... dystrophy Meesmann juvenile epithelial corneal dystrophy Gelatinous drop-like corneal dystrophy Lisch epithelial corneal ... mucinous corneal dystrophy Meesmann corneal dystrophy Lisch epithelial corneal dystrophy Gelatinous drop-like corneal dystrophy ... Lattice corneal dystrophy Granular corneal dystrophy Macular corneal dystrophy Schnyder crystalline corneal dystrophy ... epithelial basement membrane dystrophy, Reis-Bucklers corneal dystrophy, and Thiel-Behnke dystrophy. Corneal dystrophies may ...
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Meesmann corneal dystrophy             | Genetic and Rare Diseases Information Center (GARD) - an NCATS ProgramMeesmann corneal dystrophy | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program

... resources and questions answered by our Genetic and Rare Diseases Information Specialists for Meesmann corneal dystrophy ... Meesmann corneal dystrophy Title Other Names:. Meesmann corneal epithelial dystrophy; Corneal dystrophy, juvenile epithelial of ... Juvenile hereditary epithelial dystrophy; Meesmann corneal epithelial dystrophy; Corneal dystrophy, juvenile epithelial of ... Meesmann corneal dystrophy. Genetics Home Reference. 08/2012; http://ghr.nlm.nih.gov/condition/meesmann-corneal-dystrophy. ...
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KRT3 (Meesmann juvenile epithelial corneal dystrophy). *KRT4 (White sponge nevus). *KRT5 (Epidermolysis bullosa simplex) ...
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Meesmann juvenile epithelial corneal dystrophy ) KRT4 ( White sponge nevus ) KRT5 ( Epidermolysis bullosa simplex ) KRT8 ( ... Meesmann juvenile epithelial corneal dystrophy ) KRT13 ( White sponge nevus ) KRT14 ( Epidermolysis bullosa simplex ) KRT17 ( ... Meesmann juvenile epithelial corneal dystrophy ) KRT4 ( White sponge nevus ) KRT5 ( Epidermolysis bullosa simplex ) KRT8 ( ... Meesmann juvenile epithelial corneal dystrophy ) KRT13 ( White sponge nevus ) KRT14 ( Epidermolysis bullosa simplex ) KRT17 ( ...
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Corneal dystrophy - definition of Corneal dystrophy by The Free DictionaryCorneal dystrophy - definition of Corneal dystrophy by The Free Dictionary

Corneal dystrophy synonyms, Corneal dystrophy pronunciation, Corneal dystrophy translation, English dictionary definition of ... Corneal dystrophy. n. The transparent convex anterior portion of the outer fibrous coat of the eyeball that covers the iris and ... corneal dystrophy, geographic. *corneal dystrophy, Groenouw type 1. *corneal dystrophy, juvenile epithelial, of Meesmann ... had posterior corneal dystrophies, and 1(8%)had anterior corneal dystrophy.. Frequency of corneal dystrophies on the basis of ...
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Corneal Epithelial Dystrophy. Conjunctival Diseases. Cicatrix. Corneal Dystrophy, Juvenile Epithelial Of Meesmann. ... Corneal Diseases. Dystrophy. Hereditary Corneal Dystrophy. Malignant Neoplasms. Neoplasms. Granular Corneal Dystrophy. ... Epithelial Ingrowth. Chemical Burns. Epithelial Metaplasia. Macular Corneal Dystrophy Type I. Pathologic Neovascularization. ...
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Corneal dystrophy | definition of corneal dystrophy by Medical dictionaryCorneal dystrophy | definition of corneal dystrophy by Medical dictionary

... corneal dystrophy explanation free. What is corneal dystrophy? Meaning of corneal dystrophy medical term. What does corneal ... Looking for online definition of corneal dystrophy in the Medical Dictionary? ... corneal dystrophy, geographic. *corneal dystrophy, Groenouw type 1. *corneal dystrophy, juvenile epithelial, of Meesmann ... corneal dystrophy. Also found in: Dictionary, Wikipedia.. Related to corneal dystrophy: granular corneal dystrophy, corneal ...
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Corneal Dystrophies, Hereditary. Corneal Dystrophy, Juvenile Epithelial of Meesmann. Coronary Vessel Anomalies. Costello ... Muscular Dystrophies. Muscular Dystrophies, Limb-Girdle. Muscular Dystrophy, Duchenne. Muscular Dystrophy, Emery-Dreifuss. ... Muscular Dystrophy, Facioscapulohumeral. Muscular Dystrophy, Oculopharyngeal. Musculoskeletal Abnormalities. Myasthenic ... Fuchs Endothelial Dystrophy. Fucosidosis. Funnel Chest. Fused Teeth. G. Galactosemias. Gangliosidoses. Gangliosidoses, GM2. ...
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Familial adenomatous polyposis | Open Access articles | Open Access journals | Conference Proceedings | Editors | Authors |...Familial adenomatous polyposis | Open Access articles | Open Access journals | Conference Proceedings | Editors | Authors |...

KRT3 (Meesmann juvenile epithelial corneal dystrophy) * KRT4 (White sponge nevus) * KRT5 (Epidermolysis bullosa simplex) ... to APC-mutated cells are much more likely to lead to cancer than they would in non-mutated epithelial cells. ...
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Prevalence of Causes of Symptom: Vision loss  - RightDiagnosis.comPrevalence of Causes of Symptom: Vision loss - RightDiagnosis.com

Corneal dystrophy, juvenile epithelial of Meesmann... progressive visual impairment *Corneal Dystrophy, Lisch Epithelial... ... Corneal Dystrophies... visual impairment *Corneal dystrophy -- perceptive deafness... vision loss *Corneal dystrophy and ... Lattice corneal dystrophy type 1... progressive vision loss *Lattice corneal dystrophy type 2... progressive vision loss * ... Corneal dystrophy crystalline of Schnyder... decreased visual acuity *Corneal Dystrophy, Endothelial, X-Linked... reduced ...
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Epithelial basement membrane dystrophy. *Meesmann juvenile epithelial corneal dystrophy. *Gelatinous drop-like corneal ... lattice corneal dystrophy, epithelial basement membrane dystrophy, Reis-Bucklers corneal dystrophy, and Thiel-Behnke dystrophy. ... Epithelial basement membrane dystrophy. *Epithelial recurrent erosion dystrophies (EREDs)-Franceschetti corneal dystrophy, ... Corneal stromal dystrophies - Macular corneal dystrophy is manifested by a progressive dense cloudiness of the entire corneal ...
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Corneal Dystrophy, Fuchs Endothelial, 2. *Corneal Dystrophy, Juvenile Epithelial of Meesmann. *Corneal Endothelial Dystrophy, ... Corneal Dystrophy of Bowman Layer, Type 2. *Corneal Dystrophy, Avellino Type. *Corneal Dystrophy, Epithelial Basement Membrane ... Corneal Dystrophy - Pigmentary Anomaly - Malabsorption. *Corneal Dystrophy Crystalline of Schnyder. *Corneal Dystrophy of ... Corneal Dystrophy. *Corneal Dystrophy - Ichthyosis - Microcephaly - Mental Retardation. *Corneal Dystrophy - Perceptive ...
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Dilated cardiomyopathyDilated cardiomyopathy

Meesmann juvenile epithelial corneal dystrophy) · KRT13 (White sponge nevus) · KRT14 (Epidermolysis bullosa simplex) · KRT17 ( ... Meesmann juvenile epithelial corneal dystrophy) · KRT4 (White sponge nevus) · KRT5 (Epidermolysis bullosa simplex) · KRT8 ( ... Laminopathy: LMNA (Mandibuloacral dysplasia, Dunnigan Familial partial lipodystrophy, Emery-Dreifuss muscular dystrophy 2, Limb ... plectin: Epidermolysis bullosa simplex with muscular dystrophy · Epidermolysis bullosa simplex of Ogna ...
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corneal corpuscle synonyms, corneal corpuscle pronunciation, corneal corpuscle translation, English dictionary definition of ... corneal corpuscle. n. 1. a. An unattached body cell, such as a blood or lymph cell. b. A rounded globular mass of cells, such ... corneal dystrophy, geographic. *corneal dystrophy, Groenouw type 1. *corneal dystrophy, juvenile epithelial, of Meesmann ... Corneal corpuscle - definition of corneal corpuscle by The Free Dictionary https://www.thefreedictionary.com/corneal+corpuscle ...
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What is corneal corpuscles? Meaning of corneal corpuscles as a legal term. What does corneal corpuscles mean in law? ... Definition of corneal corpuscles in the Legal Dictionary - by Free online English dictionary and encyclopedia. ... corneal dystrophy, geographic. *corneal dystrophy, Groenouw type 1. *corneal dystrophy, juvenile epithelial, of Meesmann ... redirected from corneal corpuscles). Also found in: Dictionary, Thesaurus, Medical, Encyclopedia.. Related to corneal ...
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List of cutaneous conditions - WikipediaList of cutaneous conditions - Wikipedia

Meesmann corneal dystrophy Paraneoplastic keratoderma Pityriasis rosea (pityriasis rosea Gibert) Pityriasis rubra pilaris ( ... benign juvenile melanoma, epithelioid and spindle cell nevus, Spitzs juvenile melanoma) Solar lentigo (lentigo senilis, liver ... ISBN 0-7817-4088-6. McLean WH; Epithelial Genetics, Group (2003). "Genetic disorders of palm skin and nail". J Anat. 202 (1): ... Median nail dystrophy (dystrophia unguis mediana canaliformis, median canaliform dystrophy of Heller, solenonychia) Mees lines ...
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Alan Irvine : Dermatology - School of Medicine - Trinity College DublinAlan Irvine : Dermatology - School of Medicine - Trinity College Dublin

... mutant keratin 12 allele in corneal limbal epithelial cells grown from patients with Meesmanns epithelial corneal dystrophy, ... Cox, D, O Regan, G, Collins, S, Byrne, A, Irvine, A, Watson, R, Juvenile localised scleroderma: a retrospective review of ... Epithelial corneal dystrophies. in, editor(s)Wang M, Flatten N , Cornea: Dystrophies and Degenerations: A Molecular Genetics ... A novel mutation in KRT12 associated with Meesmanns Epithelial Corneal Dystrophy, British Journal of Ophthalmology, 86, (7), ...
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  • Rarely, subepithelial scarring causes irregular corneal astigmatism and permanent visual impairment. (abcam.com)
  • Symptoms may include light sensitivity (photosensitivity), contact lens intolerance, redness, pain, twitching of the eyelids (blepharospasm), increased tear production, the sensation of having a foreign object in the eye, and occasionally blurred vision ( irregular corneal astigmatism ). (cdc.gov)
  • Stargardt disease , or fundus flavimaculatus , is an inherited form of juvenile macular degeneration that causes progressive vision loss usually to the point of legal blindness. (meddic.jp)
  • STGD1 is the most common form of inherited juvenile macular degeneration with a prevalence of approximately 1 in 10,000 births. (meddic.jp)
  • occurs when fluid accumulates in the corneal stroma, disrupting the normal lamellar structure and causing a loss of transparency. (thefreedictionary.com)
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  • Diagnosis can be established on clinical grounds and this may be enhanced with studies on surgically excised corneal tissue and in some cases with molecular genetic analyses. (wikipedia.org)
  • In STGD4, a butterfly pattern of dystrophy is caused by mutations in a gene that encodes a membrane bound protein that is involved in the elongation of very long chain fatty acids (ELOVL4). (meddic.jp)
  • PC-2 or Jackson-Lawler syndrome is characterized by natal or prenatal teeth (15-50%), numerous steatocystomas and various other cystic lesions (25%), hair abnormalities (9-25%), and corneal dystrophy (8%), in addition to clinical features of PC-1 but with less severe keratodermas. (thefreedictionary.com)
  • On November 22, 2010, it was announced that Advanced Cell Technology, [ 7 ] now called Ocata Therapeutics, received United States Food and Drug Administration clearance to immediately initiate a Phase I/II multicenter clinical trial using retinal cells derived from human embryonic stem cells (hESCs) to treat patients with Stargardt's Macular Dystrophy. (meddic.jp)