Corneal Dystrophies, Hereditary
Fuchs' Endothelial Dystrophy
Corneal Dystrophy, Juvenile Epithelial of Meesmann
Collagen Type VIII
Muscular Dystrophy, Duchenne
Extracellular Matrix Proteins
Current Procedural Terminology
Transforming Growth Factor beta
Muscular Dystrophy, Facioscapulohumeral
Chromosomes, Human, Pair 5
Muscular Dystrophy, Emery-Dreifuss
Mice, Inbred mdx
Chromosomes, Human, Pair 20
Polymerase Chain Reaction
Molecular Sequence Data
Asian Continental Ancestry Group
Anion Transport Proteins
Amino Acid Substitution
Transforming Growth Factor beta1
Muscular Dystrophy, Oculopharyngeal
Reflex Sympathetic Dystrophy
Polymorphism, Single-Stranded Conformational
Genetic Association Studies
Vitelliform Macular Dystrophy
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
Collagen Type IV
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
* Nausea and vomiting
* 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:
4. Numbness or tingling in the hands and feet
5. Swelling in the legs, ankles, and feet
6. Difficulty with speech or swallowing
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-perceptive deafness syndrome
Lattice corneal dystrophy
Primary juvenile glaucoma
Cavalier King Charles Spaniel
Meesmann corneal dystrophy
Congenital hereditary endothelial dystrophy
Pointer (dog breed)
List of ICD-9 codes 320-389: diseases of the nervous system and sense organs
List of MeSH codes (C11)
List of skin conditions
List of diseases (M)
List of diseases (K)
List of OMIM disorder codes
List of diseases (C)
Sodium bicarbonate transporter-like protein 11
Hypotrichosis with juvenile macular dystrophy
List of MeSH codes (C16)
List of syndromes
List of diseases (H)
Familial Amyloidosis, Finnish Type
List of genetic disorders
King Charles Spaniel
Small interfering RNA
List of dog diseases
List of diseases (A)
List of diseases (L)
'Diagnosis': 'Hereditary Corneal Dystrophies'] | eCQI Resource...
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MedlinePlus: Genetic Conditions
- 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)
Types of corneal disease3
- 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)
- 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)
- 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)