Ontology highlight
ABSTRACT:
SUBMITTER: Chavali VR
PROVIDER: S-EPMC3080610 | biostudies-literature | 2011 May
REPOSITORIES: biostudies-literature
Chavali Venkata R M VR Khan Naheed W NW Cukras Catherine A CA Bartsch Dirk-Uwe DU Jablonski Monica M MM Ayyagari Radha R
Human molecular genetics 20110224 10
Late-onset retinal macular degeneration (L-ORD) is an autosomal dominant inherited disorder caused by a single missense mutation (S163R) in the CTRP5/C1QTNF5 protein. Early phenotypic features of L-ORD include: dark adaptation abnormalities, nyctalopia, and drusen deposits in the peripheral macular region. Apart from posterior segment abnormalities, these patients also develop abnormally long anterior lens zonules. In the sixth decade of life the rod and cone function declines, accompanied by el ...[more]