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Article

Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa.

PloS one - 1 Jan 2014

Venturini Giulia, Di Gioia Silvio Alessandro, Harper Shyana, Weigel-DiFranco Carol, Rivolta Carlo, Berson Eliot L

Abstract excerpt

Retinitis pigmentosa (RP) is a hereditary disease that leads to the progressive degeneration of retinal photoreceptor cells and to blindness. It is caused by mutations in several distinct genes, including the ciliary gene FAM161A, which is associated with a recessive form of this disorder. Recent investigations have revealed that defects in FAM161A represent a rather prevalent cause of hereditary blindness in...

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PMID: 24651477
DOI: 10.1371/journal.pone.0092479
PMCID: PMC3961368

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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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