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Macular corneal dystrophy with isolated peripheral Descemet membrane deposits
Wenlin Zhang1, Austin Connor Kassels1, Alice Barrington1
1Stein Eye Institute, UCLA, Los Angeles, CA, 90095, USA.
American Journal of Ophthalmology Case Reports
|December 5, 2019
Summary
Macular corneal dystrophy (MCD) typically affects corneal stroma. This case presents MCD type II with peripheral Descemet membrane opacities, expanding the understanding of MCD presentation and genetic basis.
Area of Science:
- Ophthalmology
- Genetics
- Corneal Diseases
Background:
- Macular corneal dystrophy (MCD) is classified as a corneal stromal dystrophy.
- MCD is characterized by the deposition of abnormal material within the corneal stroma.
Observation:
- A 68-year-old man presented with decreased vision and peripheral Descemet membrane opacities.
- Corneal examination revealed peripheral, round, gray-white deposits and reduced central corneal thickness.
- Genetic screening identified compound heterozygous CHST6 mutations.
Findings:
- The identified CHST6 mutations were c.-26C>A (creating a new uORF) and c.803A>G (p.(Tyr268Cys)).
- Serum keratan sulfate levels were reduced but detectable, supporting MCD type II diagnosis.
- This case demonstrates MCD with isolated peripheral Descemet membrane involvement.
Implications:
- Macular corneal dystrophy may present with isolated endothelial involvement, not solely stromal deposits.
- Understanding CHST6 mutations is crucial for diagnosing and managing MCD.
- This finding broadens the clinical spectrum of macular corneal dystrophy.