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Article

Homozygous null mutations in the ABCA4 gene in two families with autosomal recessive retinal dystrophy.

American journal of ophthalmology - 1 May 2006

Singh Hardeep Pal, Jalali Subhadra, Hejtmancik J Fielding, Kannabiran Chitra

Abstract excerpt

PURPOSE: To identify the genes causing autosomal recessive retinal dystrophy in Indian families and to characterize the associated phenotypes. DESIGN: Experimental and observational. METHODS: Families with autosomal recessive nonsyndromic retinal dystrophies were recruited. Complete ophthalmic evaluation, including visual acuity, visual fields, fundus examinations, and electroretinography, was performed on all...

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Source

Identifiers

PMID: 16546111
DOI: 10.1016/j.ajo.2005.12.009

Genes

ABCA4

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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Homozygous null mutations in the ABCA4 gene in two families with autosomal recessive retinal dystrophy.PMID 16546111Read ↗

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