Title : Lack of autofluorescence in fundus albipunctatus associated with mutations in RDH5.

Pub. Date : 2010 Nov-Dec

PMID : 20829743






2 Functional Relationships(s)
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1 CONCLUSION: Mutations in RDH5 associated with fundus albipunctatus seem to prevent normal lipofuscin accumulation. Lipofuscin retinol dehydrogenase 5 Homo sapiens
2 A relatively good functional status of 2 of 3 adult patients indicates that interference with 11-cis retinol dehydrogenase function may be a promising strategy for therapeutic intervention in retinal disorders featuring excessive lipofuscin accumulation. Lipofuscin retinol dehydrogenase 5 Homo sapiens