Ȧland Island eye disease in two patients harboring novel CACNA1F variants.

Abstract excerpt

Ȧland Island eye disease (ȦIED) is a rare X-linked recessive condition caused by mutations in the CACNA1F gene. The ȦIED phenotype involves an overlap of canonical features of ocular albinism and congenital stationary night blindness (CSNB), thereby presenting a diagnostic challenge. Genetic testing often cannot distinguish between ȦIED and CSNB, as many mutations in CACNA1F are known to cause either ȦIED, CSNB,...

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