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Article

X-linked juvenile retinoschisis in a consanguineous family: phenotypic variability and report of a homozygous female patient.

Retina (Philadelphia, Pa.) - 1 Dec 2014

Gliem Martin, Holz Frank G, Stöhr Heidi, Weber Bernhard H F, Charbel Issa Peter

Abstract excerpt

PURPOSE: To describe the phenotypic variability in a consanguineous family with genetically confirmed X-linked retinoschisis. METHODS: Five patients, including one homozygous female, were characterized by clinical examination, optical coherence tomography, fundus autofluorescence, mapping of macular pigment optical density, electroretinography, and DNA testing. RESULTS: The 36-year-old male index patient showed a...

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PMID: 25054456
DOI: 10.1097/IAE.0000000000000243

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