Analysis of the EFEMP1 gene in individuals and families with early onset drusen

Eye
N NarendranP N Baird

Abstract

Age-related macular degeneration (AMD) is considered a complex genetic disease, although the genetic influences are not yet fully understood. Genetic analysis is hampered by the late onset of disease and the difficulty in obtaining multigenerational families. To investigate this problem further we studied our population of early onset drusen cases. The Arg345Trp mutation on exon 10 of the EGF-containing fibulin-like extracellular matrix protein 1 (EFEMP1) gene causes two clinical phenotypes of early onset drusen (Doyne honeycomb retinal dystrophy and Malattia Leventinese), yet does not appear to be involved in other early onset drusen phenotypes or typical AMD. We wished to ascertain the involvement of the EFEMP1 gene in our population of sporadic and familial subjects presenting with early onset drusen and their affected relatives. Individuals presenting with drusen/end-stage maculopathy at 60 years or under were identified from retinal clinics in Melbourne. All available first- and second-degree relatives were also examined. In all, 116 ethnically matched controls were collected from the same community for comparison. Single stranded conformational polymorphism (SSCP) analysis and subsequent sequencing revealed four previousl...Continue Reading

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Citations

May 17, 2005·Fitoterapia·Nicole Lunceford, Alejandro Gugliucci
Feb 14, 2012·Ocular Immunology and Inflammation·Jingsheng TuoChi-Chao Chan
Dec 29, 2007·Ophthalmic Genetics·Irene A BarbazettoRando Allikmets
May 26, 2011·Seminars in Ophthalmology·Margaret M DeangelisIvana K Kim
Mar 21, 2007·Angiogenesis·Albert O Edwards, Goldis Malek
Jun 16, 2012·Ciência & saúde coletiva·Deise Lisboa Riquinho, Elida Azevedo Hennington
Jul 17, 2020·Frontiers in Cell and Developmental Biology·Mi ZhouJeffrey M Sundstrom
Mar 11, 2021·Molecular Genetics & Genomic Medicine·Inger Norlyk SheyanthMichael Bjørn Petersen
Sep 25, 2021·Biomédica : revista del Instituto Nacional de Salud·Nancy GelvezMartha L Tamayo

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