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Article

Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.

American journal of medical genetics. Part A - 15 Feb 2009

Benayoun Liat, Spiegel Ronen, Auslender Noa, Abbasi Anan H, Rizel Leah, Hujeirat Yasir, Salama Ihsan, Garzozi Hanna J, Allon-Shalev Stavit, Ben-Yosef Tamar

Abstract excerpt

Retinitis pigmentosa is the most common form of hereditary retinal degeneration, with a worldwide prevalence of 1 in 4,000. At least 28 genes and loci have been implicated in nonsyndromic autosomal recessive retinitis pigmentosa. Here we report two extended and highly consanguineous families segregating early onset retinitis pigmentosa. Despite the consanguinity in both families, we found allelic heterogeneity in...

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Identifiers

PMID: 19140180
DOI: 10.1002/ajmg.a.32634

Genes

CRB1
RDH12

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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