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Article

Retinal pigment epithelium defects in humans and mice with mutations in MYO7A: imaging melanosome-specific autofluorescence.

Investigative ophthalmology & visual science - 1 Sept 2009

Gibbs Daniel, Cideciyan Artur V, Jacobson Samuel G, Williams David S

Abstract excerpt

PURPOSE: Usher syndrome (USH) is a genetically heterogeneous disease with autosomal recessive deafness and blindness. Gene therapy is under development for use in the most common genetic variant of USH1, USH1B, which is caused by mutations in the MYO7A gene. This study was undertaken to identify an imaging method for noninvasively monitoring the RPE component of the USH1B disease. METHODS: NIR-autofluorescence...

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Identifiers

PMID: 19324852
DOI: 10.1167/iovs.09-3471
PMCID: PMC2884175

Genes

RPE

Provenance

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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Retinal pigment epithelium defects in humans and mice with mutations in MYO7A: imaging melanosome-specific autofluorescence.PMID 19324852Read ↗

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