Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation ofRBP3Is Associated With High Myopia and Retinal Dystrophy

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Abstract

We present a detailed clinical and molecular study of four patients from two consanguineous families with a similar childhood-onset retinal dystrophy resulting from novel homozygous nonsense mutations in RBP3.

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Journal

Title: Investigative Opthalmology & Visual Science

Abbreviated Title: Invest. Ophthalmol. Vis. Sci.

Publisher: Association for Research in Vision and Ophthalmology (ARVO)

ISSN (Print): 1552-5783

Publication date Created: April 01 2015

Publication date (Print): April 10 2015

Volume: 56

Issue: 4

Page: 2358

Affiliations

[1 ]UCL Institute of Ophthalmology, London, United Kingdom 2Moorfields Eye Hospital, London, United Kingdom

[2 ]UCL Institute of Ophthalmology, London, United Kingdom

[3 ]University College London Genetics Institute, London, United Kingdom

[4 ]UCL Institute of Ophthalmology, London, United Kingdom 2Moorfields Eye Hospital, London, United Kingdom 4Ophthalmology Department, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom 5Department of Ophthalmology, University of Cali

Article

DOI: 10.1167/iovs.15-16520

PubMed ID: 25766589

SO-VID: bfdaa56a-77c6-4b5b-9bc5-c2ae3555f097

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