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Autosomal recessive bestrophinopathy: new observations on the retinal phenotype - clinical and molecular report of an Italian family
- Source :
- Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde. 225(4)
- Publication Year :
- 2010
-
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.
- Subjects :
- Male
Pathology
medicine.medical_specialty
Retinal Disorder
genetic structures
Genotype
Nonsense mutation
Visual Acuity
Biology
Fundus (eye)
Retina
Genotype-phenotype distinction
Retinal Diseases
Chloride Channels
medicine
Electroretinography
Humans
Genetic Predisposition to Disease
Child
Eye Proteins
Genotyping
medicine.diagnostic_test
General Medicine
DNA
eye diseases
Sensory Systems
Pedigree
Ophthalmology
Electrooculography
Mutation
Female
sense organs
Erg
Autosomal recessive bestrophinopathy
Tomography, Optical Coherence
Subjects
Details
- ISSN :
- 14230267
- Volume :
- 225
- Issue :
- 4
- Database :
- OpenAIRE
- Journal :
- Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde
- Accession number :
- edsair.doi.dedup.....484ee0c3f2db196f04f829752e61f749