Schnyder corneal dystrophy
Schnyder Corneal Dystrophy Schnyder corneal dystrophy (SCD) is a rare, inherited eye disorder characterized by the accumulation of cholesterol and lipid deposits in the cornea, leading to progressive vision impairment. This condition is part of a group of disorders known as corneal dystrophies, which affect the clarity and function of the cornea.
Clinical Features[edit | edit source]
Schnyder corneal dystrophy typically presents with the following clinical features:
- Corneal Opacification: Patients often develop a cloudy or opaque cornea due to lipid deposits. This can lead to decreased visual acuity.
- Arcus Lipoides: A ring-like opacity, known as arcus lipoides, may form around the corneal periphery.
- Crystalline Deposits: In some cases, crystalline deposits can be observed in the cornea, giving it a sparkling appearance.
- Photophobia: Sensitivity to light is a common symptom due to corneal changes.
Genetics[edit | edit source]
Schnyder corneal dystrophy is inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. The condition is associated with mutations in the UBIAD1 gene, which plays a role in cholesterol metabolism.
Diagnosis[edit | edit source]
Diagnosis of SCD is based on clinical examination and family history. Key diagnostic tools include:
- Slit-lamp Examination: This is used to observe the characteristic corneal changes.
- Genetic Testing: Identifying mutations in the UBIAD1 gene can confirm the diagnosis.
- Corneal Topography: This imaging technique helps assess the shape and clarity of the cornea.
Differential Diagnosis[edit | edit source]
Schnyder corneal dystrophy should be differentiated from other corneal dystrophies, such as:
Management[edit | edit source]
There is no cure for Schnyder corneal dystrophy, but management focuses on alleviating symptoms and improving vision:
- Spectacles or Contact Lenses: These can help correct refractive errors caused by corneal changes.
- Corneal Transplantation: In advanced cases, a corneal transplant may be necessary to restore vision.
- Phototherapeutic Keratectomy (PTK): This laser procedure can remove superficial corneal opacities.
Prognosis[edit | edit source]
The progression of Schnyder corneal dystrophy varies among individuals. While some may experience significant vision loss, others maintain relatively good vision throughout life. Regular monitoring by an ophthalmologist is essential.
Research and Future Directions[edit | edit source]
Ongoing research aims to better understand the genetic and biochemical pathways involved in SCD. Potential future therapies may include gene therapy or targeted treatments to reduce lipid accumulation in the cornea.
See Also[edit | edit source]
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
Schnyder corneal dystrophy is a rare disease.
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Contributors: Prab R. Tumpati, MD
