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


CONCLUSIONS
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.
*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.
Adrian T
AT
Fung
Heidi
H
Stöhr
Bernhard H F
BH
Weber
Frank G
FG
Holz
Lawrence A
LA
Yannuzzi