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Article

Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family.

Ophthalmic research - 1 Jan 2000

Simonelli Francesca, Testa Francesco, Zernant Jana, Nesti Anna, Rossi Settimio, Rinaldi Ernesto, Allikmets Rando

Abstract excerpt

Genetic variation in the ABCA4 (ABCR) gene has been associated with several distinct retinal phenotypes, including Stargardt disease/fundus flavimaculatus (STGD/FFM), cone-rod dystrophy (CRD), retinitis pigmentosa (RP) and age-related macular degeneration. The current model of genotype/phenotype association suggests that patients harboring deleterious mutations in both ABCR alleles would develop RP-like retinal...

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Identifiers

PMID: 15017103
DOI: 10.1159/000076886

Genes

ABCA4

Variants

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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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