Abstract
Purpose: The purpose of this study was to report a patient with an atypical presentation of Sorsby fundus dystrophy. Methods: Retrospective chart review. Results: A 38-year-old man with a family history of Sorsby fundus dystrophy presented for ophthalmic examination. The patient had unilateral disease with an atypical appearance mimicking a pattern dystrophy. Molecular analysis of the TIMP-3 gene identified a Tyr159Cys mutation. He developed choroidal neovascularization, which was successfully treated with photodynamic therapy followed by intravitreal bevacizumab. Conclusion: Sorsby fundus dystrophy associated with a Tyr159Cys TIMP-3 point mutation may have a variable presentation. Intravitreal bevacizumab is useful in managing choroidal neovascularization associated with this condition.
Original language | English |
---|---|
Pages (from-to) | 71-74 |
Number of pages | 4 |
Journal | Retinal Cases and Brief Reports |
Volume | 7 |
Issue number | 1 |
DOIs | |
Publication status | Published - Dec 2013 |
Externally published | Yes |
Keywords
- Sorsby fundus dystrophy
- TIMP-3