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Article

Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.

PloS one - 1 Jan 2015

Srilekha Sundaramurthy, Arokiasamy Tharigopala, Srikrupa Natarajan N, Umashankar Vetrivel, Meenakshi Swaminathan, Sen Parveen, Kapur Suman, Soumittra Nagasamy

Abstract excerpt

Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP) are retinal degenerative diseases which cause severe retinal dystrophy affecting the photoreceptors. LCA is predominantly inherited as an autosomal recessive trait and contributes to 5% of all retinal dystrophies; whereas RP is inherited by all the Mendelian pattern of inheritance and both are leading causes of visual impairment in children and young...

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Source

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Identifiers

PMID: 26147992
DOI: 10.1371/journal.pone.0131679
PMCID: PMC4493089

Genes

AIPL1
CRB1
RDH12
RPE65
IQCB1
MERTK
SPATA7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.PMID 26147992Read ↗

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