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Article

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

Genes - 27 Jan 2021

Mahmood Usman, Méjécase Cécile, Ali Syed M A, Moosajee Mariya, Kozak Igor

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33513752
DOI: 10.3390/genes12020171
PMCID: PMC7911795

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