{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T16:31:58Z","timestamp":1758126718741,"version":"3.41.2"},"reference-count":9,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,5,5]],"date-time":"2023-05-05T00:00:00Z","timestamp":1683244800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>AB variant GM2 gangliosidosis is an extremely rare autosomal recessive lysosomal storage disease. Macular cherry-red spots are the most commonly described ocular sign in this disease. Here, for the first time we report a case of an infant with AB variant GM2 gangliosidosis, along with multimodal optical imaging and genetic testing results.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case description<\/jats:title><jats:p>A 7-month-old Chinese girl presented to the hospital with nystagmus for 2 months. Her family history for this condition showed negative results, and her parents were not known to be consanguineous. Fundus photography showed a cherry-red spot with a ring of whitish infiltrate surrounding both macula. Fundus fluorescein angiography showed normal retinal circulation and vessels. Optical coherence tomography (OCT) revealed a thickening and increased reflectivity of the inner retinal layers with a shadowing effect on the outer structures. The patient had no obvious neurological symptoms, and the MRI results of the head were normal. The whole-exome genome sequencing results showed that there was a homozygous deletion (chr5: 150639196-150639548) of exon 2 in the <jats:italic>GM2A<\/jats:italic> gene. Finally, the patient was diagnosed with AB variant GM2 gangliosidosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>AB variant GM2 gangliosidosis is a rare disease affecting multiple nervous systems. Before the occurrence of typical neurological symptoms, the clinical features of fundus photography and OCT help us diagnose GM2 gangliosidosis.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fped.2023.1147836","type":"journal-article","created":{"date-parts":[[2023,5,5]],"date-time":"2023-05-05T05:18:45Z","timestamp":1683263925000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Multimodal optical imaging and genetic features of AB variant GM2 gangliosidosis: a case report"],"prefix":"10.3389","volume":"11","author":[{"given":"Qin","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fang","family":"Lu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2023,5,5]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"6213","DOI":"10.3390\/ijms21176213","article-title":"GM2 gangliosidoses: clinical features, pathophysiological aspects, and current therapies","volume":"21","author":"Leal","year":"2020","journal-title":"Int J Mol Sci"},{"key":"B2","doi-asserted-by":"publisher","first-page":"805","DOI":"10.1515\/jpem-2020-0655","article-title":"Two patients from Turkey with a novel variant in the GM2A gene and review of the literature","volume":"34","author":"\u0130nci","year":"2021","journal-title":"J Pediatr Endocrinol Metab"},{"key":"B3","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1007\/8904_2017_31","article-title":"GM2 activator deficiency caused by a homozygous exon 2 deletion in GM2A","volume":"38","author":"Hall","year":"2017","journal-title":"JIMD report"},{"key":"B4","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1186\/s12887-016-0626-6","article-title":"GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review","volume":"16","author":"Sheth","year":"2016","journal-title":"BMC Pediatr"},{"key":"B5","doi-asserted-by":"publisher","first-page":"609","DOI":"10.1016\/S0008-4182(05)80054-7","article-title":"\u201cCherry-red spot\u201d or \u201cperifoveal white patch\u201d?","volume":"40","author":"Ospina","year":"2005","journal-title":"Can J Ophthalmol"},{"key":"B6","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1111\/j.1469-8749.2011.04160.x","article-title":"GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed","volume":"54","author":"Smith","year":"2012","journal-title":"Dev Med Child Neurol"},{"key":"B7","doi-asserted-by":"publisher","first-page":"838","DOI":"10.1136\/bjophthalmol-2020-316826","article-title":"A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot","volume":"105","author":"Varela","year":"2021","journal-title":"Br J Ophthalmol"},{"key":"B8","doi-asserted-by":"publisher","first-page":"1089","DOI":"10.1001\/archopht.1980.01020031079014","article-title":"Sandhoff\u2019s disease (Gm2 gangliosidosis type 2): histopathology and ultrastructure of the eye","volume":"98","author":"Brownstein","year":"1980","journal-title":"Arch Ophthalmol"},{"key":"B9","doi-asserted-by":"publisher","first-page":"OCT69","DOI":"10.1167\/iovs.15-18825","article-title":"Pediatric optical coherence tomography in clinical practice\u2014recent progress","volume":"57","author":"Lee","year":"2016","journal-title":"Investig Ophthalmol Vis Sci"}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2023.1147836\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,5]],"date-time":"2023-05-05T05:18:47Z","timestamp":1683263927000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2023.1147836\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,5]]},"references-count":9,"alternative-id":["10.3389\/fped.2023.1147836"],"URL":"https:\/\/doi.org\/10.3389\/fped.2023.1147836","relation":{},"ISSN":["2296-2360"],"issn-type":[{"type":"electronic","value":"2296-2360"}],"subject":[],"published":{"date-parts":[[2023,5,5]]},"article-number":"1147836"}}