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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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Diseases of the neuronal system (Homo sapiens)
Diseases associated with visual transduction (Homo sapiens)
Retinoid cycle disease events (Homo sapiens)
Defective visual phototransduction due to RDH5 loss of function (Homo sapiens)
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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
Events
Defective RDH5 does not oxidise 11cROL to 11cRAL and causes RPA
(Homo sapiens)
Participates
as an event of
Retinoid cycle disease events (Homo sapiens)
Disease
Name
Identifier
Synonyms
fundus albipunctatus
DOID:11105
Pigmentary retinal dystrophy, Pigmentary retinal dystrophy (disorder)
Authored
Jassal, B (2012-09-12)
Reviewed
Matthews, L (2024-08-15)
Created
Orlic-Milacic, M (2024-08-15)
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