Article
Multiethnic involvement in autosomal-dominant optic atrophy in Singapore.
Eye (London, England) - 1 Mar 2017
Loo J L, Singhal S, Rukmini A V, Tow S, Amati-Bonneau P, Procaccio V, Bonneau D, Gooley J J, Reynier P, Ferré M, Milea D
Abstract excerpt
PurposeAutosomal-dominant optic atrophy (ADOA), often associated with mutations in the OPA1 gene (chromosome 3q28-q29) is rarely reported in Asia. Our aim was to identify and describe this condition in an Asian population in Singapore.Patients and methodsPreliminary cross-sectional study at the Singapore National Eye Centre, including patients with clinical suspicion of ADOA, who subsequently underwent genetic...
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