SUMMARY
RPE65, an abundant membrane-associated protein present in the retinal pigment epithelium (RPE), is a vital retinoid isomerase necessary for regenerating 11-cis-retinaldehyde from all-trans retinol in the visual cycle. RPE65 variants account for 2.1% of patients with autosomal recessive inherited retinal dystrophies (IRDs), and the phenotype resulting from RPE65 variants appears to be relatively uniform. The loss of RPE65 function involves the loss of catalytic activity, a lower expression level of RPE65, or the rapid degradation of the variant protein. In IRD patients, precise genetic diagnosis is an indispensable approach, as it is . . .
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