Article
Two novel compound heterozygous SAG mutations in an Italian patient with Oguchi disease: A genetic and multimodal retinal imaging study.
European journal of ophthalmology - 1 Nov 2022
Pilotto Elisabetta, Trevisson Eva, Nacci Elisabetta Beatrice, Longhin Evelyn, Guidolin Francesca, Midena Edoardo
Abstract excerpt
BACKGROUND: Oguchi disease is a rare autosomal recessive retinal dystrophy, characterized by congenital stationary blindness and caused by pathogenic variants in SAG and GRK1 genes. The present study aimed to report an Italian patient affected by Oguchi disease, evaluated by means of a multimodal retinal imaging study and harboring two novel heterozygous pathogenic variants in the SAG gene. MATERIALS AND METHODS:...
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