Autosomal Recessive Bestrophinopathy: New Observations on the Retinal Phenotype – Clinical and Molecular Report of an Italian Family

Ophthalmologica - Tập 225 Số 4 - Trang 228-235 - 2011
Silvana Guerriero1, Markus N. Preising2, N. Ciccolella1, F Causio3, Birgit Lorenz2, Rita Fischetto4
1Ophthalmology and ORL and
2Department of Ophthalmology, Justus Liebig University Giessen, Universitaetsklinikum Giessen and Marburg GmbH, Giessen, Germany
3Obstetrics, Gynecology and Neonatology, University of Bari, and
4Department of Metabolic and Genetic Disease, P.O. Giovanni XXIII, AOU Policlinico Consorziale, Bari, Italy

Tóm tắt

<i>Purpose:</i> To describe the genotype and phenotype in a 9-year-old boy with bilateral retinopathy. <i>Methods:</i> 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 <i>BEST1</i> gene. <i>Results:</i> 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 <i>BEST1</i> (p.R200X). The parents and the sister, who were heterozygous mutation carriers, presented with normal ophthalmological function. <i>Conclusions:</i> ARB is a rare retinal disorder. We contribute a novel patient report indicative of ARB, assessed by clinical examination and confirmed by genotyping of <i>BEST1,</i> to the short list of ARB cases in the literature.

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10.1007%2Fs10633-008-9154-5

10.1007%2Fs00417-006-0286-6

10.1016%2Fj.ajhg.2009.09.015

10.1023%2FB%3ADOOP.0000036793.44912.45

10.1007%2Fs10633-006-9030-0

10.1007%2Fs10633-007-9089-2

10.1023%2FA%3A1022591317907

10.1167%2Fiovs.02-1076

10.1080%2F13816810600677990

10.1016%2Fj.ceb.2010.05.005

10.1002%2Fhumu.9189

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Ophthalmologica

Tập 225 Số 4

228-235

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