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 journalArticlepeer-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 languageEnglish
Pages (from-to)71-74
Number of pages4
JournalRetinal Cases and Brief Reports
Volume7
Issue number1
DOIs
Publication statusPublished - Dec 2013
Externally publishedYes

Keywords

  • Sorsby fundus dystrophy
  • TIMP-3

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