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Article

Autosomal recessive bestrophinopathy: new observations on the retinal phenotype - clinical and molecular report of an Italian family.

Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde - 1 Jan 2011

Guerriero S, Preising M N, Ciccolella N, Causio F, Lorenz B, Fischetto R

Abstract excerpt

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,...

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Source

Identifiers

PMID: 21412020
DOI: 10.1159/000324472

Genes

ERG
BEST1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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