Journal article

Publication year: 2011

Pages: 228-235

Journal: Ophthalmologica: The European Retina Journal

Volume number: 225

Issue number: 4

ISSN: 0030-3755

eISSN: 1423-0267

DOI Link: https://doi.org/10.1159/000324472

Publisher: Karger Publishers

Abstract: 
Purpose: To describe the genotype and phenotype in a 9-year-old boy with bilateral retinopathy. Methods: The patient, his healthy (by history) nonconsanguineous parents and his sister were examined by best-corrected visual acuity, matrix frequency doubling technology, monocular static field analysis, fundus autofluorescence imaging, optical coherence tomography, Ganzfeld electroretinography (ERG), pattern ERG, multifocal ERG, electro-oculography and genotyping of the BEST1 gene. Results: The patient presented with an Arden ratio of 1.25, an unremarkable ERG and fluorescent yellow deposits distributed throughout the fundus suggestive of autosomal recessive bestrophinopathy (ARB). Genotyping revealed a homozygous nonsense mutation in BEST1 (p.R200X). The parents and the sister, who were heterozygous mutation carriers, presented with normal ophthalmological function. Conclusions: ARB is a rare retinal disorder. We contribute a novel patient report indicative of ARB, assessed by clinical examination and confirmed by genotyping of BEST1, to the short list of ARB cases in the literature. Copyright (C) 2011 S. Karger AG, Basel

Harvard Citation style: Guerriero, S., Preising, M., Ciccolella, N., Causio, F., Lorenz, B. and Fischetto, R. (2011) Autosomal Recessive Bestrophinopathy: New Observations on the Retinal Phenotype - Clinical and Molecular Report of an Italian Family, Ophthalmologica: The European Retina Journal, 225(4), pp. 228-235. https://doi.org/10.1159/000324472

APA Citation style: Guerriero, S., Preising, M., Ciccolella, N., Causio, F., Lorenz, B., & Fischetto, R. (2011). Autosomal Recessive Bestrophinopathy: New Observations on the Retinal Phenotype - Clinical and Molecular Report of an Italian Family. Ophthalmologica: The European Retina Journal. 225(4), 228-235. https://doi.org/10.1159/000324472