An Unusual Retinal Presentation of a Novel COL11A1 Mutation: A Case Report
Introduction: Stickler syndrome is a rare collagenopathy, caused by mutations in various genes coding for fibrillar collagens II, IX, and XI. The disorder can be subdivided into different groups, depending on the genes affected and clinical features found in patients. Ocular symptoms, suc...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Karger Publishers
2025-01-01
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| Series: | Case Reports in Ophthalmology |
| Online Access: | https://karger.com/article/doi/10.1159/000542708 |
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