Atypical sorsby fundus dystrophy with a novel tyr159cys timp-3 mutation.

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.