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Article

Etiology of Vision Loss in Ganglioside GM3 Synthase Deficiency

1 Jan 2006

Abstract excerpt

PURPOSE: To investigate the cause of vision loss in patients with ganglioside GM3 synthase deficiency, a newly described rare autosomal recessive infantile-onset symptomatic epilepsy syndrome associated with developmental stagnation and blindness. METHODS: We examined four children from two related Amish sibships. Molecular genetic analysis confirmed inheritance of the founder mutation. Electroretinography and...

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PMID: 17050284
DOI: 10.1080/13816810600862626

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