{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T12:53:55Z","timestamp":1774270435502,"version":"3.50.1"},"reference-count":94,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2021,2,25]],"date-time":"2021-02-25T00:00:00Z","timestamp":1614211200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100001116","name":"Foundation Fighting Blindness","doi-asserted-by":"publisher","award":["CD-CL-0617-0727-HSC"],"award-info":[{"award-number":["CD-CL-0617-0727-HSC"]}],"id":[{"id":"10.13039\/100001116","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Hemizygous pathogenic variants in CACNA1F lead to defective signal transmission from retinal photoreceptors to bipolar cells and cause incomplete congenital stationary night blindness in humans. Although the primary defect is at the terminal end of first-order neurons (photoreceptors), there is limited knowledge of higher-order neuronal changes (inner retinal) in this disorder. This study aimed to investigate inner retinal changes in CACNA1F-retinopathy by analyzing macular ganglion cell layer-inner plexiform layer (GCL-IPL) thickness and optic disc pallor in 22 subjects with molecularly confirmed CACNA1F-retinopathy. Detailed ocular phenotypic data including distance and color vision, refraction and electroretinogram (ERG) were collected. Distance vision was universally reduced (mean: 0.42 LogMAR), six had abnormal color vision and myopia was common (n = 15; mean: \u22126.32 diopters). Mean GCL-IPL thickness was significantly lower in patients (55.00 \u00b5m) compared to age-matched controls (n = 87; 84.57 \u00b5m; p &lt;&lt; 0.001). The GCL-IPL thickness correlated with scotopic standard (p = 0.04) and bright-flash (p = 0.014) ERG b\/a ratios and photopic b-wave amplitudes (p = 0.05). Twenty-one patients had some degree of disc pallor (bilateral in 19). Fifteen putative disease-causing, including five novel variants were identified. This study establishes macular inner retinal thinning and optic atrophy as characteristic features of CACNA1F-retinopathy, which are independent of myopia and could impact potential future treatment strategies.<\/jats:p>","DOI":"10.3390\/genes12030330","type":"journal-article","created":{"date-parts":[[2021,2,25]],"date-time":"2021-02-25T21:16:53Z","timestamp":1614287813000},"page":"330","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Optic Atrophy and Inner Retinal Thinning in CACNA1F-Related Congenital Stationary Night Blindness"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2287-5513","authenticated-orcid":false,"given":"Kate E","family":"Leahy","sequence":"first","affiliation":[{"name":"Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada"},{"name":"Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON M5T 3A9, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5071-9978","authenticated-orcid":false,"given":"Tom","family":"Wright","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON M5T 3A9, Canada"},{"name":"Kensington Eye Institute, Toronto, ON M5T 3A9, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7007-461X","authenticated-orcid":false,"given":"Monika K","family":"Grudzinska Pechhacker","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada"},{"name":"Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON M5T 3A9, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0698-5309","authenticated-orcid":false,"given":"Isabelle","family":"Audo","sequence":"additional","affiliation":[{"name":"INSERM, CNRS, Institut de la Vision, Sorbonne Universit\u00e9, 75012 Paris, France"},{"name":"CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC 1423, 75012 Paris, France"},{"name":"Institute of Ophthalmology, University College of London, London EC1V 9EL, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anupreet","family":"Tumber","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erika","family":"Tavares","sequence":"additional","affiliation":[{"name":"Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heather","family":"MacDonald","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada"},{"name":"Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada"},{"name":"Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeff","family":"Locke","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cynthia","family":"VandenHoven","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3510-1712","authenticated-orcid":false,"given":"Christina","family":"Zeitz","sequence":"additional","affiliation":[{"name":"INSERM, CNRS, Institut de la Vision, Sorbonne Universit\u00e9, 75012 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elise","family":"Heon","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada"},{"name":"Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON M5T 3A9, Canada"},{"name":"Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J Raymond","family":"Buncic","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada"},{"name":"Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON M5T 3A9, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6446-3846","authenticated-orcid":false,"given":"Ajoy","family":"Vincent","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada"},{"name":"Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON M5T 3A9, Canada"},{"name":"Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,2,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.preteyeres.2014.09.001","article-title":"Congenital stationary night blindness: An analysis and 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