{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T17:22:30Z","timestamp":1793467350020,"version":"4.5.0"},"reference-count":40,"publisher":"American Medical Association (AMA)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAMA Ophthalmol"],"published-print":{"date-parts":[[2026,1,1]]},"abstract":"\n Importance<\/jats:title>\n Inherited retinal dystrophies are a group of disorders that may lead to progressive vision loss. Improved knowledge of their molecular genetics is important for accurate diagnosis or development of targeted therapies.<\/jats:p>\n <\/jats:sec>\n \n Objective<\/jats:title>\n \n To identify pathogenic variants in the\n SLC6A6<\/jats:italic>\n gene (encoding TauT, the main transporter for taurine) and assess their role in the molecular pathogenesis of hereditary early-onset retinal dystrophy (EORD) in affected individuals from diverse ethnic backgrounds.\n <\/jats:p>\n <\/jats:sec>\n \n Design, Setting, and Participants<\/jats:title>\n This was a retrospective, multicenter observational study conducted between June 2019 and March 2025, involving 7 affected and 10 unaffected individuals from 4 unrelated families recruited in Pakistan, Italy, the US, and France.<\/jats:p>\n <\/jats:sec>\n \n Exposure<\/jats:title>\n \n Pathogenic variants in\n SLC6A6<\/jats:italic>\n in individuals with EORD.\n <\/jats:p>\n <\/jats:sec>\n \n Main Outcomes and Measures<\/jats:title>\n \n Genetic, clinical, and functional outcomes of pathogenic variants in\n SLC6A6<\/jats:italic>\n in individuals with Leber congenital amaurosis (LCA) and EORD. All patients underwent standard clinical examinations, including visual acuity, full-field electroretinography, and multimodal retinal imaging, followed by measurement of fasting plasma taurine levels. In vitro and ex vivo taurine transport and membrane trafficking assays in human embryonic kidney (HEK)-293 cells, as well as patient-derived fibroblasts, were also performed.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n All 7 affected individuals exhibited LCA\/EORD, with extraocular findings in some. Genetic analysis identified homozygous pathogenic\n SLC6A6<\/jats:italic>\n variants in all affected individuals, while unaffected relatives were heterozygous carriers. Families 1 and 2 carried missense variants p.(Thr249Ile) and p.(Ala294Thr), while families 3 and 4 carried truncating variants\u2014a deletion of exon 11 and p.(Thr113Ter), respectively. Functional studies demonstrated that both missense variants are associated with complete loss of taurine transport in HEK-293 cells and patient-derived fibroblasts. Additionally, irrespective of the variants considered, plasma taurine levels in affected individuals were reduced compared with heterozygous carriers (difference between means, \u221231.7 \u00b5mol\/L; 95% CI, \u221242.7 to \u221220.8;\n P<\/jats:italic>\n \u2009&amp;lt;\u2009.001) and healthy control individuals (difference between means, \u221237.7 \u00b5mol\/L; 95% CI \u221241.6 to \u221233.8;\n P<\/jats:italic>\n \u2009&amp;lt;\u2009.001).\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions and Relevance<\/jats:title>\n \n These findings confirm and expand the role of biallelic variants in\n SLC6A6<\/jats:italic>\n in association with LCA\/EORD due to impaired taurine transport. These findings suggest that patients with a diagnosis of\n SLC6A6<\/jats:italic>\n -related LCA\/EORD may be candidates for investigational oral taurine supplementation.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1001\/jamaophthalmol.2025.4875","type":"journal-article","created":{"date-parts":[[2025,12,4]],"date-time":"2025-12-04T16:30:49Z","timestamp":1764865849000},"page":"70","source":"Crossref","is-referenced-by-count":2,"title":["Early-Onset Retinopathy in Patients With Variants in\n SLC6A6<\/i>\n Leading to Impaired Taurine Transport"],"prefix":"10.1001","volume":"144","author":[{"given":"Mukhtar","family":"Ullah","sequence":"first","affiliation":[{"name":"Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland"},{"name":"Department of Ophthalmology, University of Basel, Basel, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atta Ur","family":"Rehman","sequence":"additional","affiliation":[{"name":"Department of Zoology, Faculty of Biological and Health Sciences, Hazara University, Mansehra, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madhur","family":"Shetty","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, University of North Dakota School of Medicine and Health Sciences, Grand Forks"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael D.","family":"Allen","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, University of North Dakota School of Medicine and Health Sciences, Grand Forks"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ehsan","family":"Ullah","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina G.","family":"Signorini","sequence":"additional","affiliation":[{"name":"Developmental Neuro-Ophthalmology Unit, IRCCS Mondino Foundation, Pavia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cyril Burin","family":"des Roziers","sequence":"additional","affiliation":[{"name":"Laboratoire SeqOIA, Paris, France"},{"name":"Service de M\u00e9decine G\u00e9nomique des Maladies de Syst\u00e8me et d\u2019Organe, H\u00f4pital Cochin, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosalie M.","family":"Grijalva","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, University of North Dakota School of Medicine and Health Sciences, Grand Forks"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdur","family":"Rashid","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Jules Gonin Eye Hospital-Fondation Asile Des Aveugles and University of Lausanne, Lausanne, 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Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aime R.","family":"Agather","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ioannis","family":"Dimopoulos","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert B.","family":"Hufnagel","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edouard","family":"Malandain","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Rouen University Hospital and University of Rouen, Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliette","family":"Coursimault","sequence":"additional","affiliation":[{"name":"Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Ansar","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Jules Gonin Eye Hospital-Fondation Asile Des Aveugles and University of Lausanne, Lausanne, Switzerland"},{"name":"Advanced Molecular Genetics and Genomics Disease Research and Treatment Centre, Dow University of Health Sciences, Sindh, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stylianos E.","family":"Antonarakis","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Superti-Furga","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine, University of Lausanne, Lausanne, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanaullah","family":"Jan","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Hayatabad Medical Complex, Peshawar, Khyber Pakhtunkhwa, Pakistan"},{"name":"Pakistan Institute of Community Ophthalmology, Hayatabad Medical Complex, Peshawar, Khyber Pakhtunkhwa, Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian P.","family":"Brooks","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giacomo","family":"Calzetti","sequence":"additional","affiliation":[{"name":"Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland"},{"name":"Department of Ophthalmology, University of Basel, Basel, Switzerland"},{"name":"Vista Vision Eye Clinic, Brescia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bin","family":"Guan","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathieu","family":"Quinodoz","sequence":"additional","affiliation":[{"name":"Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland"},{"name":"Department of Ophthalmology, University of Basel, Basel, Switzerland"},{"name":"Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. Keith","family":"Henry","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, University of North Dakota School of Medicine and Health Sciences, Grand Forks"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Rivolta","sequence":"additional","affiliation":[{"name":"Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland"},{"name":"Department of Ophthalmology, University of Basel, Basel, Switzerland"},{"name":"Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10","reference":[{"issue":"9","key":"eoi250075r1","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1136\/bjophthalmol-2016-309975","article-title":"Leber congenital amaurosis\/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic 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