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Article

Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.

Human molecular genetics - 1 Aug 2008

Jacobson Samuel G, Cideciyan Artur V, Aleman Tomas S, Sumaroka Alexander, Roman Alejandro J, Gardner Leigh M, Prosser Haydn M, Mishra Monalisa, Bech-Hansen N Torben, Herrera Waldo, Schwartz Sharon B, Liu Xue-Zhong, Kimberling William J, Steel Karen P, Williams David S

Abstract excerpt

Usher syndrome (USH) is a genetically heterogeneous group of autosomal recessive deaf-blinding disorders. Pathophysiology leading to the blinding retinal degeneration in USH is uncertain. There is evidence for involvement of the photoreceptor cilium, photoreceptor synapse, the adjacent retinal pigment epithelium (RPE) cells, and the Crumbs protein complex, the latter implying developmental abnormalities in the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18463160
DOI: 10.1093/hmg/ddn140
PMCID: PMC2733815

Genes

RPE
PCDH15
CRB1

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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