A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Aland Island Eye Disease and Incomplete Congenital Stationary Night Blindness.

ABSTRACT:

Background

CACNA1F-related disorders encompass progressive and non-progressive disorders, including Åland island eye disease and incomplete congenital stationary night blindness. These two X-linked disorders are characterized by nystagmus, color vision defect, myopia, and electroretinography (ERG) abnormalities. Ocular hypopigmentation and iris transillumination are reported only in patients with Åland island eye disease. Around 260 variants were reported to be associated with these two non-progressive disorders, with 19 specific to Åland island eye disease and 14 associated with both Åland island eye disease and incomplete congenital stationary night blindness. CACNA1F variants spread on the gene and further analysis are needed to reveal phenotype-genotype correlatio

SUBMITTER: Mahmood U 

PROVIDER: S-EPMC7911795 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature