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Article

Aland Island Eye Disease with Retinoschisis in the Clinical Spectrum of CACNA1F-Associated Retinopathy-A Case Report.

International journal of molecular sciences - 2 Mar 2024

Wyględowska-Promieńska Dorota, Świerczyńska Marta, Śpiewak Dorota, Pojda-Wilczek Dorota, Tronina Agnieszka, Dorecka Mariola, Smędowski Adrian

Abstract excerpt

Aland island eye disease (AIED), an incomplete form of X-linked congenital stationary night blindness (CSNB2A), and X-linked cone-rod dystrophy type 3 (CORDX3) display many overlapping clinical findings. They result from mutations in the CACNA1F gene encoding the α1F subunit of the Cav1.4 channel, which plays a key role in neurotransmission from rod and cone photoreceptors to bipolar cells. Case report: A...

Topics

Male
Humans
Child, Preschool
Infant
Middle Aged
Retinoschisis
Calcium Channels, L-Type
Genetic Diseases, X-Linked
Retinal Diseases
Retina
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Night Blindness

Myopia

Albinism, Ocular

Retinitis Pigmentosa

Eye Diseases, Hereditary

Source

Open in PubMed Open full text

Identifiers

PMID: 38474172
DOI: 10.3390/ijms25052928
PMCID: PMC10931673

Provenance

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

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Aland Island Eye Disease with Retinoschisis in the Clinical Spectrum of CACNA1F-Associated Retinopathy-A Case Report.PMID 38474172Read ↗

Ȧland Island eye disease in two patients harboring novel CACNA1F variants.Semantic proximity Read ↗

A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.Semantic proximity Read ↗

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Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.Semantic proximity Read ↗

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Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod DystrophiesSemantic proximity Read ↗

X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F geneSemantic proximity Read ↗

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F ‐mediated inherited retinal disordersSemantic proximity Read ↗

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