{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T11:45:26Z","timestamp":1769600726932,"version":"3.49.0"},"reference-count":37,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2024,3,2]],"date-time":"2024-03-02T00:00:00Z","timestamp":1709337600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>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 \u03b11F subunit of the Cav1.4 channel, which plays a key role in neurotransmission from rod and cone photoreceptors to bipolar cells. Case report: A 57-year-old Caucasian man who had suffered since his early childhood from nystagmus, nyctalopia, low visual acuity and high myopia in both eyes (OU) presented to expand the diagnostic process, because similar symptoms had occurred in his 2-month-old grandson. Additionally, the patient was diagnosed with protanomalous color vision deficiency, diffuse thinning, and moderate hypopigmentation of the retina. Optical coherence tomography of the macula revealed retinoschisis in the right eye and foveal hypoplasia in the left eye. Dark-adapted (DA) 3.0 flash full-field electroretinography (ffERG) amplitudes of a-waves were attenuated, and the amplitudes of b-waves were abolished, which resulted in a negative pattern of the ERG. Moreover, the light-adapted 3.0 and 3.0 flicker ffERG as well as the DA 0.01 ffERG were consistent with severely reduced responses OU. Genetic testing revealed a hemizygous form of a stop-gained mutation (c.4051C&gt;T) in exon 35 of the CACNA1F gene. This pathogenic variant has so far been described in combination with a phenotype corresponding to CSNB2A and CORDX3. This report contributes to expanding the knowledge of the clinical spectrum of CACNA1F-related disease. Wide variability and the overlapping clinical manifestations observed within AIED and its allelic disorders may not be explained solely by the consequences of different mutations on proteins. The lack of distinct genotype\u2013phenotype correlations indicates the presence of additional, not yet identified, disease-modifying factors.<\/jats:p>","DOI":"10.3390\/ijms25052928","type":"journal-article","created":{"date-parts":[[2024,3,4]],"date-time":"2024-03-04T05:31:12Z","timestamp":1709530272000},"page":"2928","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Aland Island Eye Disease with Retinoschisis in the Clinical Spectrum of CACNA1F-Associated Retinopathy\u2014A Case Report"],"prefix":"10.3390","volume":"25","author":[{"given":"Dorota","family":"Wygl\u0119dowska-Promie\u0144ska","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-514 Katowice, Poland"},{"name":"Kornel Gibi\u0144ski University Clinical Center, 40-514 Katowice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"\u015awierczy\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-514 Katowice, Poland"},{"name":"Kornel Gibi\u0144ski University Clinical Center, 40-514 Katowice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorota","family":"\u015apiewak","sequence":"additional","affiliation":[{"name":"Kornel Gibi\u0144ski University Clinical Center, 40-514 Katowice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorota","family":"Pojda-Wilczek","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-514 Katowice, Poland"},{"name":"Kornel Gibi\u0144ski University Clinical Center, 40-514 Katowice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnieszka","family":"Tronina","sequence":"additional","affiliation":[{"name":"Kornel Gibi\u0144ski University Clinical Center, 40-514 Katowice, Poland"},{"name":"Department of Pediatric Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-514 Katowice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariola","family":"Dorecka","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-514 Katowice, Poland"},{"name":"Kornel Gibi\u0144ski University Clinical Center, 40-514 Katowice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adrian","family":"Sm\u0119dowski","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-514 Katowice, Poland"},{"name":"Kornel Gibi\u0144ski University Clinical Center, 40-514 Katowice, Poland"},{"name":"GlaucoTech Co., 40-282 Katowice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,3,2]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"6861","DOI":"10.1167\/iovs.16-19445","article-title":"Clinical Characteristics, Mutation Spectrum, and Prevalence of \u00c5land Eye Disease\/Incomplete Congenital Stationary Night Blindness in Denmark","volume":"57","author":"Hove","year":"2016","journal-title":"Investig. 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