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Two novel CACNA1F gene mutations cause two different phenotypes: Aland Eye Disease and incomplete Congenital Stationary Night Blindness.

Experimental eye research - 1 Aug 2022

Mihalich Alessandra, Cammarata Gabriella, Tremolada Gemma, Pollazzon Marzia, Di Blasio Anna Maria, Marzoli Stefania Bianchi

Abstract excerpt

Congenital Stationary Night Blindness type 2 (CSNB2) and Aland island Eye Disease (AIED) associated with CACNA1F mutation demonstrate a significant phenotype overlapping. We report two cases with different clinical presentation carrying two novel mutations in CACNA1F gene. Subjects underwent a complete neurophtahlmological examination associated with structural and electrofunctional insight. Next Generation...

Topics

Albinism, Ocular
Calcium Channels, L-Type
Eye Diseases, Hereditary
Finland
Genetic Diseases, X-Linked
Humans
Mutation
Myopia
Night Blindness
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35697328
DOI: 10.1016/j.exer.2022.109143

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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