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

Gliem, M., Holz, Frank G., Stöhr, Heidi, Weber, Bernhard H. F. and Issa, Peter Charbel (2014) X-linked juvenile retinoschisis in a consanguineous family: phenotypic variability and report of a homozygous female patient. Retina 34, pp. 2472-2408.

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Abstract

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 ...

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Item type:Article
Date:2014
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
0.1097/IAE.0000000000000243DOI
25054456PubMed ID
Keywords:X-linked retinoschisis, fundus autofluorescence, optical coherence tomography, macular pigment, consanguinity, homozygosity
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Partially
Item ID:35166
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