Retinol with cis configuration at the 11-position (carotenoid numbering) or 5'-position (retinol numbering) of the side chain; an intermediate in the vision cycle.
Synonym(s): neoretinene B
Farlex Partner Medical Dictionary © Farlex 2012
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It is caused by mutations in RDH5, encoding 11-cis-retinol dehydrogenase [33], and leads to impaired production of 11-cis retinal, restricting the photopigment turnover and leading to reduced formation of lipofuscin [34].
The presumed accumulation of cis-retinol and cis-retinyl esters in the RPE because of 11-cis-retinol dehydrogenase deficiency is responsible for the formation of white flecks in RDH5 mutation-associated fundus albipunctatus [36, 37] (Figure 7).