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

Adrian T. Fung^*, Heidi Stöhr, Bernhard H F Weber, Frank G. Holz, Lawrence A. Yannuzzi

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

4 Citations (Scopus)

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	https://doi.org/10.1097/ICB.0b013e318267101e
Publication status	Published - Dec 2013
Externally published	Yes

Keywords

Sorsby fundus dystrophy
TIMP-3

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10.1097/ICB.0b013e318267101e

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title = "Atypical sorsby fundus dystrophy with a novel tyr159cys timp-3 mutation",

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.",

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AU - Fung, Adrian T.

AU - Stöhr, Heidi

AU - Weber, Bernhard H F

AU - Holz, Frank G.

AU - Yannuzzi, Lawrence A.

PY - 2013/12

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N2 - 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.

AB - 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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