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Brittle cornea syndrome: a case report and comparison with Ehlers Danlos syndrome
Muralidhar Ramappa1, M Edward Wilson2, R Curtis Rogers3
1Miles Center for Pediatric Ophthalmology, Storm Eye Institute, Department of Ophthalmology, Medical University of South Carolina, Charleston; Cornea and Anterior Segment Services, L V Prasad Eye Institute, Kallam Anji Reddy Campus, Hyderabad, India.
Insights
Brittle cornea syndrome, a rare genetic disorder, can cause severe eye problems like thin corneas and high myopia in infants. Early diagnosis and management are crucial for preventing complications such as corneal rupture.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Brittle cornea syndrome (BCS) is a rare inherited connective tissue disorder.
- It is characterized by fragile corneas that are prone to rupture.
- Ocular manifestations include blue sclera, keratoconus, and progressive myopia.
Abstract:
We report a 6-week-old white boy of nonconsanguineous parents who presented with bluish scleral discoloration, thin corneas, and progressive high myopia. A diagnosis of brittle cornea syndrome was confirmed by molecular analysis and prompt measures were taken to manage the condition. Long-term follow-up of children diagnosed with brittle cornea syndrome is important to minimize the risks of corneal rupture and for detecting late-onset systemic conditions.
