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

Adrian T Fung; Heidi Stöhr; Bernhard H F Weber; Frank G Holz; Lawrence A Yannuzzi

doi:10.1097/ICB.0b013e318267101e

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

Retin Cases Brief Rep. 2013 Winter;7(1):71-4. doi: 10.1097/ICB.0b013e318267101e.

Authors

Adrian T Fung¹, Heidi Stöhr, Bernhard H F Weber, Frank G Holz, Lawrence A Yannuzzi

Affiliation

¹ *The LuEsther T. Mertz Retinal Research Center of Manhattan Eye, Ear & Throat Institute and Vitreous-Retina-Macula Consultants of New York, New York †Institute of Human Genetics, University of Regensburg, Regensburg, Germany ‡Department of Ophthalmology, University of Bonn, Bonn, Germany.

PMID: 25390527
DOI: 10.1097/ICB.0b013e318267101e

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.