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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...

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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 2 Sept 2026. Prepared record publication-15288992-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65.PMID 15288992Read ↗

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