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Article

Clinical and genetic features in Italian Bietti crystalline dystrophy patients.

The British journal of ophthalmology - 1 Feb 2013

Rossi Settimio, Testa Francesco, Li Anren, Yaylacioğlu Fulya, Gesualdo Carlo, Hejtmancik J Fielding, Simonelli Francesca

Abstract excerpt

AIM: The aim of the study was to describe the clinical and genetic features of 15 Italian patients with Bietti crystalline dystrophy (BCD). METHODS: All study participants underwent a complete ophthalmological examination, including standard electroretinogram (ERG), optical coherence tomography, microperimetry, autofluorescence and multifocal electroretinogram. The 11 exons of the CYP4V2 gene were sequenced. The...

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Share to Cytochrome P450 Family 4
Share to Corneal Dystrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23221965
DOI: 10.1136/bjophthalmol-2012-302469
PMCID: PMC3582089

Genes

ERG

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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