Article
Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family.
Ophthalmic genetics - 1 Feb 2021
Pappalardo Juanita, Heath Jeffery Rachael C, Thompson Jennifer A, Charng Jason, Chelva Enid S, Constable Ian J, McLaren Terri L, Lamey Tina M, De Roach John N, Chen Fred K
Abstract excerpt
BACKGROUND: Heterozygous c.440 G > T mutation in the S-antigen visual arrestin (SAG) gene has been described as a cause of autosomal dominant retinitis pigmentosa (adRP) in a series of patients of Hispanic origin. This study presents the early and late clinical features and disease progression rates in an Australian family with SAG adRP. MATERIALS AND METHODS: An observational case series of four family members...
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