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Updated: Apr 21, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Atypical sorsby fundus dystrophy with a novel tyr159cys timp-3 mutation
Adrian T Fung1, Heidi Stöhr, Bernhard H F Weber
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.
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.
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