Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy

Investigative Ophthalmology & Visual Science
Gavin ArnoAnthony T Moore

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. Four children with mutations in RBP3 encoding interphotoreceptor binding protein (IRBP) were ascertained by whole exome sequencing and subsequent direct Sanger sequencing. Detailed phenotyping was performed, including full clinical evaluation, electroretinography, fundus photography, fundus autofluorescence (FAF) imaging, and spectral-domain optical coherence tomography (OCT). Two novel homozygous nonsense mutations (c.1530T>A;p.Y510* and c.3454G>T;p.E1152*) in RBP3 were identified in four patients from two families. All four patients had a similar, unusual retinal dystrophy characterized by childhood onset high myopia, generalized rod and cone dysfunction, and an unremarkable fundus appearance. The FAF imaging showed multiple paracentral foci of low autofluorescence in one patient and patchy increased FAF in the region of the vascular arcades in another. The OCT showed loss of outer retinal bands over peripheral macular areas in all 4 cases. To our knowledge, this report is the first to describe the retinal dystrophy in ...Continue Reading

Citations

Sep 8, 2015·Experimental Eye Research·Debashis GhoshFederico Gonzalez-Fernandez
May 8, 2016·Experimental Eye Research·Debashis GhoshFederico Gonzalez-Fernandez
Aug 30, 2020·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Avery E SearsKrzysztof Palczewski
Aug 5, 2016·Asia-Pacific Journal of Ophthalmology·Shi Song RongChi Pui Pang
Mar 15, 2020·Molecular Biology and Evolution·Michael R McGowenAnd Stephen J Rossiter
Dec 18, 2020·Frontiers in Cellular Neuroscience·Shaoxue ZengLing Zhu
Mar 13, 2021·Advances in Medical Sciences·Joanna SwierkowskaMarzena Gajecka
Aug 25, 2021·Indian Journal of Ophthalmology·Deven DhurandharRaja Narayanan

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