Article
Novel mutation in the CHST6 gene causes macular corneal dystrophy in a black South African family.
BMC medical genetics - 20 Jul 2016
Carstens Nadia, Williams Susan, Goolam Saadiah, Carmichael Trevor, Cheung Ming Sin, Büchmann-Møller Stine, Sultan Marc, Staedtler Frank, Zou Chao, Swart Peter, Rice Dennis S, Lacoste Arnaud, Paes Kim, Ramsay Michèle
Abstract excerpt
BACKGROUND: Macular corneal dystrophy (MCD) is a rare autosomal recessive disorder that is characterized by progressive corneal opacity that starts in early childhood and ultimately progresses to blindness in early adulthood. The aim of this study was to identify the cause of MCD in a black South African family with two affected sisters. METHODS: A multigenerational South African Sotho-speaking family with type I...
Topics
Join the communities discussing this publication.