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Article

Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65.

Ophthalmology - 1 Aug 2004

Lorenz Birgit, Wabbels Bettina, Wegscheider Erika, Hamel Christian P, Drexler Wolfgang, Preising Markus N

Abstract excerpt

PURPOSE: Fundus autofluorescence is due to accumulation of lipofuscin in the retinal pigment epithelium (RPE) resulting from incomplete digestion of N-retinylidene-phosphatidyl-ethanolamine from shed photoreceptor outer segment discs. Alteration in autofluorescence reflects changes in lipofuscin content of the RPE. Mutations on both alleles of RPE65 result in absent or largely decreased formation of rhodopsin,...

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Source

Identifiers

PMID: 15288992
DOI: 10.1016/j.ophtha.2004.01.033

Genes

RPE65
RPE
LRAT

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.

Related research

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