Article
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.
Ophthalmology - 1 Jan 2015
Roosing Susanne, van den Born L Ingeborgh, Sangermano Riccardo, Banfi Sandro, Koenekoop Robert K, Zonneveld-Vrieling Marijke N, Klaver Caroline C W, van Lith-Verhoeven Janneke J C, Cremers Frans P M, den Hollander Anneke I, Hoyng Carel B
Abstract excerpt
PURPOSE: This study aimed to identify the genetic defects in 2 families with autosomal recessive macular dystrophy with central cone involvement. DESIGN: Case series. PARTICIPANTS: Two families and a cohort of 244 individuals with various inherited maculopathies and cone disorders. METHODS: Genome-wide linkage analysis and exome sequencing were performed in 1 large family with 5 affected individuals. In addition,...
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