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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...

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Identifiers

PMID: 38474172
DOI: 10.3390/ijms25052928
PMCID: PMC10931673

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 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 ↗

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

A novel CACNA1F gene mutation causes Aland Island eye disease.Semantic proximity Read ↗

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

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

Incomplete congenital stationary night blindness associated with a novel variant in the CACNA1F gene.Semantic proximity Read ↗

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Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2.Semantic proximity Read ↗

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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