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The disease usually manifests with ataxia, but previous reports suggested PRKCG variants in retinal pathology. To systematically investigate for the first time visual function and retinal morphology in patients with SCA-PRKCG. Seventeen patients with PRKCG variants and 17 healthy controls were prospectively recruited, of which 12 genetically confirmed SCA-PRKCG patients and 14 matched controls were analyzed. We enquired a structured history for visual symptoms. Vision-related quality of life was obtained with the National Eye Institute Visual Function Questionnaire (NEI-VFQ) including the Neuro-Ophthalmic Supplement (NOS). Participants underwent testing of visual acuity, contrast sensitivity, visual fields, and retinal morphology with optical coherence tomography (OCT). Measurements of the SCA-PRKCG group were analyzed for their association with clinical parameters (ataxia rating and disease duration). SCA-PRKCG patients rate their vision-related quality of life in NEI-VFQ significantly worse than controls. Furthermore, binocular visual acuity and contrast sensitivity were worse in SCA-PRKCG patients compared with controls. Despite this, none of the OCT measurements differed between groups. NEI-VFQ and NOS composite scores were related to ataxia severity. Additionally, we describe one patient with a genetic variant of uncertain significance in the catalytic domain of PKC\u03b3 who, unlike all confirmed SCA-PRKCG, presented with a clinically silent epitheliopathy. SCA-PRKCG patients had reduced binocular vision and vision-related quality of life. Since no structural retinal damage was found, the pathomechanism of these findings remains unclear.<\/jats:p>","DOI":"10.1007\/s12311-020-01130-w","type":"journal-article","created":{"date-parts":[[2020,4,27]],"date-time":"2020-04-27T10:02:46Z","timestamp":1587981766000},"page":"469-482","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Investigation of Visual System Involvement in Spinocerebellar Ataxia Type 14"],"prefix":"10.1007","volume":"19","author":[{"given":"Thomas","family":"Ihl","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ella M.","family":"Kadas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timm","family":"Oberwahrenbrock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Endres","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Klockgether","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Schroeter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander U.","family":"Brandt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Friedemann","family":"Paul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Minnerop","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Doss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanja","family":"Schmitz-H\u00fcbsch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanna G.","family":"Zimmermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,4,27]]},"reference":[{"issue":"6","key":"1130_CR1","doi-asserted-by":"publisher","first-page":"924","DOI":"10.1002\/ana.410420615","volume":"42","author":"L Sch\u00f6ls","year":"1997","unstructured":"Sch\u00f6ls L, Amoiridis G, B\u00fcttner T, Przuntek H, Epplen JT, Riess O. 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It was approved by the ethics committee of Charit\u00e9 Universit\u00e4tsmedizin Berlin and all participants gave informed written consent.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"TI reports no conflict of interest.EK is a cofounder, shareholder, and CEO of NOCTURNE.TO reports no conflict of interest.ME reports grants from Bayer and fees paid to the Charit\u00e9 from Bayer, Boehringer Ingelheim, BMS\/Pfizer, Daiichi Sankyo, Amgen, GSK, Sanofi, Covidien, and Novartis, all outside the submitted work.TK receives\/has received research support from the Deutsche Forschungsgemeinschaft (DFG), the Bundesministerium f\u00fcr Bildung und Forschung (BMBF), the Bundesministerium f\u00fcr Gesundheit (BMG), the Robert Bosch Foundation, the European Union (EU), and the National Institutes of Health (NIH). He has received consulting fees from Biohaven and UBC. He has received a speaker honorarium from Novartis.JS reports no conflict of interest.AUB is a cofounder and shareholder of Motognosis and Nocturne. He is named as an inventor on several patent applications regarding MS serum biomarkers, OCT image analysis, and perceptive visual computing.FP reports research and travel grants and speaker honoraria from Bayer, Teva, Sanofi-Aventis\/Genzyme, Merck Serono, Novartis, MedImmune, Biogen Idec, Alexion, Chugai, Shire and is a member of the steering committee of the OCTIMS study (Novartis), is a shareholder of Nocturne GmbH, unrelated to this work, and is named as an inventor on several OCT-based patent applications, unrelated to this work.MM reports no conflict of interest.SD obtained project funding for unrelated projects from Actelion and Teva and travel reimbursement from Actelion.TSH reports research and travel grants and speaker honoraria from Roelke pharma, Roche, Celgene, and Biogen, all unrelated to this work.HZ received research grants from Novartis, unrelated to this study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}}]}}