Detailed comparison of phenotype between male patients carrying variants in exons 1-14 and ORF15 of RPGR.

CONCLUSIONS: Patients with variants in exons 1-14 retained less visual acuity than patients with ORF15 variants and deteriorated faster. However, the ellipsoid zone widths, central retinal thickness and refractions were comparable between the two groups. Autofluorescence pattern relates to the age and the variant grouping.
PMID: 32702353 [PubMed - as supplied by publisher]

Source: Experimental Eye Research - July 19, 2020 Category: Opthalmology Authors: Zou X, Fang S, Wu SJ, Li H, Sun ZX, Zhu T, Wei X, Sui RF Tags: Exp Eye Res Source Type: research