{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T17:34:54Z","timestamp":1790184894068,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,11,25]],"date-time":"2021-11-25T00:00:00Z","timestamp":1637798400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Thiamine\u2010responsive megaloblastic anemia syndrome (TRMA) is an autosomal recessive disorder, inherited by the defective <jats:italic>SLC19A2<\/jats:italic> gene that encodes a high\u2010affinity thiamine transporter (THTR\u20101). TRMA is characterized by the occurrence of classical triad manifestations including megaloblastic anemia, diabetes mellitus, and sensorineural deafness. In addition to the systemic manifestations, ophthalmic features can be present and include retinitis pigmentosa, optic atrophy, cone\u2010rod dystrophy, maculopathy, and Leber congenital amaurosis. Here we report a 6\u2010year\u2010old boy presenting severe early\u2010onset retinal dystrophy with the initial diagnosis of Leber congenital amaurosis, which followed for 12\u2009years. Diabetes mellitus occurred 3\u2009years after vision problem. Eosinophilic granuloma of the left scapula was confirmed at 13\u2009years old. Whole\u2010exome sequencing was performed to identify two novel compound heterozygous variants c.725dupC (p.Ala243Serfs*3) and c.121G&gt;A (p.Gly41Ser) in <jats:italic>SLC19A2<\/jats:italic> gene (NM_006996.3). Oral thiamine supplementation treatment was initiated at 13\u2009years. This case demonstrates Leber congenital amaurosis can present as the first clinical feature before systemic manifestations. Phenotypic variety should be aware and multidisciplinary teamwork and regular follow\u2010up are important for TRMA patient care.<\/jats:p>","DOI":"10.1002\/ajmg.a.62582","type":"journal-article","created":{"date-parts":[[2021,11,26]],"date-time":"2021-11-26T09:56:13Z","timestamp":1637920573000},"page":"948-952","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine\u2010responsive megaloblastic anemia syndrome"],"prefix":"10.1002","volume":"188","author":[{"given":"Shijing","family":"Wu","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital Chinese Academy of Medical Sciences and Peking Union Medical College  Beijing 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