Ontology highlight
ABSTRACT:
SUBMITTER: Lin B
PROVIDER: S-EPMC5064356 | biostudies-literature | 2016 Oct
REPOSITORIES: biostudies-literature
Lin Bing B Cai Xue-Bi XB Zheng Zhi-Li ZL Huang Xiu-Feng XF Liu Xiao-Ling XL Qu Jia J Jin Zi-Bing ZB
Scientific reports 20161014
Stargardt disease (STGD1) is a juvenile macular degeneration predominantly inherited in an autosomal recessive pattern, characterized by decreased central vision in the first 2 decades of life. The condition has a genetic basis due to mutation in the ABCA4 gene, and arises from the deposition of lipofuscin-like substance in the retinal pigmented epithelium (RPE) with secondary photoreceptor cell death. In this study, we describe the clinical and genetic features of Stargardt patients from four u ...[more]