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Article

Expanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy.

Genes - 10 May 2021

da Palma Mariana Matioli, Motta Fabiana Louise, Salles Mariana Vallim, Texeira Caio Henrique Marques, Gomes André V, Casaroli-Marano Ricardo, Sallum Juliana Maria Ferraz

Abstract excerpt

The rare form of retinal dystrophy, Bietti crystalline dystrophy, is associated with variations in CYP4V2, a member of the cytochrome P450 family. This study reports patients affected by typical and atypical Bietti crystalline dystrophy, expanding the spectrum of this disease. This is an observational case series of patients with a clinical and molecular diagnosis of Bietti crystalline dystrophy that underwent...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 34068831
DOI: 10.3390/genes12050713
PMCID: PMC8151499

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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