C21orf2 variants causing inherited retinal disease: A review of what we know and a report of two new suspected cases

Variants in the C21orf2 (CFAP410) gene have recently been associated with the development of retinitis pigmentosa, an inherited condition characterized by degeneration of the retina. In this article, we describe 34 previously reported cases of C21orf2 variant-associated retinopathies and present two new suspected cases.

Automated summary

Variants in the C21orf2 gene are linked to the development of retinitis pigmentosa. This article discusses 34 previously reported cases of C21orf2 variant-associated retinopathies and presents two new suspected cases.