ArticleFrontiers in pediatrics2023
Multimodal optical imaging and genetic features of AB variant GM2 gangliosidosis: a case report.
Article in Frontiers in pediatrics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 2 citations in OpenAlex.
- GM2 Gangliosidosis AB Variant: A Hidden Truth.Cureus · 2025Article
- GM2 activator deficiency: An ultra-rare disorder with a new case and review of 22 published cases.Molecular genetics and metabolism reports · 2025Article
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Authors and funding
2 authors at 2 institutions in 1 country.
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Abstract
Background: 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. Case description: 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 Conclusions: 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.
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