Defective visual phototransduction due to RDH5 loss of function

Stable Identifier
R-HSA-9918438
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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11-cis-retinol dehydrogenase (RDH5) can reversibly catalyse the oxidation of all-trans-retinol (atROL, bound to RLBP1) to all-trans-retinal (atRAL) in retinal pigment epithelium (RPE) cells using NAD+ as cofactor. Defective RDH5 causes retinitis punctata albescens (RPA, also called fundus albipunctatus, FA; MIM:136880). RPA (an autosomal recessive disorder) is a form of stationary congenital night blindness characterised by a reduced regeneration rate of rod and cone photoreceptors and yellow-white lesions within the retina or the RPE. For review, please refer to Zeitz et al. 2015.
Literature References
PubMed ID Title Journal Year
25307992 Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms

Audo, I, Zeitz, C, Robson, AG

Prog Retin Eye Res 2015
Participants
Participates
Disease
Name Identifier Synonyms
fundus albipunctatus DOID:11105 Pigmentary retinal dystrophy, Pigmentary retinal dystrophy (disorder)
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