{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T06:42:20Z","timestamp":1762324940264,"version":"build-2065373602"},"reference-count":51,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2021,2,21]],"date-time":"2021-02-21T00:00:00Z","timestamp":1613865600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004329","name":"Javna Agencija za Raziskovalno Dejavnost RS","doi-asserted-by":"publisher","award":["ARRS J3-1750"],"award-info":[{"award-number":["ARRS J3-1750"]}],"id":[{"id":"10.13039\/501100004329","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Mutations in rhodopsin gene (RHO) are a frequent cause of retinitis pigmentosa (RP) and less often, congenital stationary night blindness (CSNB). Mutation p.G90D has previously been associated with CSNB based on the examination of one family. This study screened 60 patients. Out of these 60 patients, 32 were affected and a full characterization was conducted in 15 patients. We described the clinical characteristics of these 15 patients (12 male, median age 42 years, range 8\u201371) from three families including visual field (Campus Goldmann), fundus autofluorescence (FAF), optical coherence tomography (OCT) and electrophysiology. Phenotypes were classified into four categories: CSNB (N = 3, 20%) sector RP (N = 3, 20%), pericentral RP (N = 1, 6.7%) and classic RP (N = 8, 53.3% (8\/15)). The phenotypes were not associated with family, sex or age (Kruskal\u2013Wallis, p &gt; 0.05), however, cystoid macular edema (CME) was observed only in one family. Among the subjects reporting nyctalopia, 69% (22\/32) were male. The clinical characteristics of the largest p.G90D cohort so far showed a large frequency of progressive retinal degeneration with 53.3% developing RP, contrary to the previous report.<\/jats:p>","DOI":"10.3390\/ijms22042133","type":"journal-article","created":{"date-parts":[[2021,2,21]],"date-time":"2021-02-21T22:04:15Z","timestamp":1613945055000},"page":"2133","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene"],"prefix":"10.3390","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2248-9209","authenticated-orcid":false,"given":"Nina","family":"Kobal","sequence":"first","affiliation":[{"name":"Eye Hospital, University Medical Centre Ljubljana, Grablovi\u010deva ulica 46, 1000 Ljubljana, Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tja\u0161a","family":"Kra\u0161ovec","sequence":"additional","affiliation":[{"name":"Eye Hospital, University Medical Centre Ljubljana, Grablovi\u010deva ulica 46, 1000 Ljubljana, Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maja","family":"\u0160u\u0161tar","sequence":"additional","affiliation":[{"name":"Eye Hospital, University Medical Centre Ljubljana, Grablovi\u010deva ulica 46, 1000 Ljubljana, Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marija","family":"Volk","sequence":"additional","affiliation":[{"name":"Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, \u0160lajmerjeva ulica 4, 1000 Ljubljana, Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Borut","family":"Peterlin","sequence":"additional","affiliation":[{"name":"Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, \u0160lajmerjeva ulica 4, 1000 Ljubljana, Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marko","family":"Hawlina","sequence":"additional","affiliation":[{"name":"Eye Hospital, University Medical Centre Ljubljana, Grablovi\u010deva ulica 46, 1000 Ljubljana, Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6132-4808","authenticated-orcid":false,"given":"Ana","family":"Fakin","sequence":"additional","affiliation":[{"name":"Eye Hospital, University Medical Centre Ljubljana, Grablovi\u010deva ulica 46, 1000 Ljubljana, Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,2,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"5378","DOI":"10.1016\/j.jmb.2020.08.006","article-title":"Disruption of hydrogen-bond network in rhodopsin mutations cause night blindness","volume":"432","author":"Katayama","year":"2020","journal-title":"J. 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