Article
A Phenotypic Study of CRB1 Retinopathy Secondary to the Variant p.(Pro836Thr) Prevalent in Those of Black African Ancestry.
Investigative ophthalmology & visual science - 1 Jul 2025
Wong Wendy M, Robson Anthony G, Baker Rebecca A, Arno Gavin, Van Aerschot Joseph, Lin Siying, Moosajee Mariya, Michaelides Michel, Mahroo Omar A, Webster Andrew R
Abstract excerpt
Purpose: To comprehensively characterize the clinical consequences of the CRB1 variant p.(Pro836Thr). In African populations, this variant has an allele frequency of 0.329% (gnomAD v4.1.0). Methods: This study was a retrospective case series of 14 patients from 11 families with molecularly confirmed CRB1-associated retinal dystrophy, each possessing at least one p.(Pro836Thr) variant. The age at onset of visual...
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