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Article

Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.

European journal of human genetics : EJHG - 1 Nov 2013

Jonsson Frida, Burstedt Marie S, Sandgren Ola, Norberg Anna, Golovleva Irina

Abstract excerpt

This study aimed to identify genetic mechanisms underlying severe retinal degeneration in one large family from northern Sweden, members of which presented with early-onset autosomal recessive retinitis pigmentosa and juvenile macular dystrophy. The clinical records of affected family members were analysed retrospectively and ophthalmological and electrophysiological examinations were performed in selected cases....

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Source

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Identifiers

PMID: 23443024
DOI: 10.1038/ejhg.2013.23
PMCID: PMC3798833

Genes

ABCA4
CRB1

Variants

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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