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Multiethnic involvement in autosomal-dominant optic atrophy in Singapore.
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.
Afiliación
  • Loo JL; Department of Neuro-Ophthalmology, Singapore National Eye Centre, Singapore, Singapore.
  • Singhal S; Department of Neuro-Ophthalmology, Singapore National Eye Centre, Singapore, Singapore.
  • Rukmini AV; Singapore Eye Research Institute, Singapore, Singapore.
  • Tow S; Duke-NUS Graduate Medical School, Singapore, Singapore.
  • Amati-Bonneau P; Duke-NUS Graduate Medical School, Singapore, Singapore.
  • Procaccio V; Department of Neuro-Ophthalmology, Singapore National Eye Centre, Singapore, Singapore.
  • Bonneau D; Department of Biochemistry and Genetics, UMR CNRS6214-INSERM1083, University Hospital of Angers, Angers, France.
  • Gooley JJ; Department of Biochemistry and Genetics, UMR CNRS6214-INSERM1083, University Hospital of Angers, Angers, France.
  • Reynier P; Department of Biochemistry and Genetics, UMR CNRS6214-INSERM1083, University Hospital of Angers, Angers, France.
  • Ferré M; Duke-NUS Graduate Medical School, Singapore, Singapore.
  • Milea D; Department of Biochemistry and Genetics, UMR CNRS6214-INSERM1083, University Hospital of Angers, Angers, France.
Eye (Lond) ; 31(3): 475-480, 2017 Mar.
Article en En | MEDLINE | ID: mdl-27858935
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 testing by direct sequencing of the OPA1 gene.ResultsAmong 12 patients (10 families) with clinically suspected ADOA, 7 patients (5 families) from 3 different ethnic origins (Chinese, Indian, and Malay) carried a heterozygous pathogenic variant in the OPA1 gene. The OPA1 mutations were located on exons 8, 9, 11, and 17: c.869G>A (p.Arg290Glu), c.892A>G (p.Ser298Gly), c.1140G>A (splicing mutation), and c.1669C>T (p.Arg557*), respectively. One splicing mutation (c.871-1G>A) was identified in intron 8. We also identified a novel mutation causing optic atrophy and deafness (c.892A>G (p.Ser298Gly)). Among the phenotypic features, colour pupillometry disclosed a dissociation between low vision and preserved pupillary light reflex in ADOA.ConclusionWe report the first cases of genetically confirmed OPA1-related ADOA from Singapore, including a novel mutation causing 'ADOA plus' syndrome. Further epidemiological studies are needed in order to determine the prevalence of ADOA in South-East Asia.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Atrofia Óptica Autosómica Dominante / GTP Fosfohidrolasas / Mutación Tipo de estudio: Observational_studies / Prevalence_studies / Risk_factors_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Eye (Lond) Asunto de la revista: OFTALMOLOGIA Año: 2017 Tipo del documento: Article País de afiliación: Singapur Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Atrofia Óptica Autosómica Dominante / GTP Fosfohidrolasas / Mutación Tipo de estudio: Observational_studies / Prevalence_studies / Risk_factors_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Eye (Lond) Asunto de la revista: OFTALMOLOGIA Año: 2017 Tipo del documento: Article País de afiliación: Singapur Pais de publicación: Reino Unido