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Article

Identification of novel CYP4V2 genotypes associated with Bietti crystalline dystrophy and atypical anterior segment phenotypes in Spanish patients.

Acta ophthalmologica - 1 Nov 2018

García-García Gerardo Pedro, Martínez-Rubio Magdalena, Moya-Moya Medina-Azahara, Pérez-Santonja Juan José, Escribano Julio

Abstract excerpt

PURPOSE: To identify the spectrum of disease-causing CYP4V2 variants in Spanish patients with clinically diagnosed Bietti crystalline dystrophy (BCD) over an 8-year period and to analyse the phenotype-genotype correlation of the identified variants. METHODS: Four unrelated Spanish probands with a clinical diagnosis of BCD were recruited. Ophthalmological examination included visual acuity (VA), slit lamp...

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PMID: 29691984
DOI: 10.1111/aos.13768

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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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