Ontology highlight
ABSTRACT:
SUBMITTER: Ahram D
PROVIDER: S-EPMC2668005 | biostudies-literature | 2009 Feb
REPOSITORIES: biostudies-literature
Ahram Dina D Sato T Shawn TS Kohilan Abdulghani A Tayeh Marwan M Chen Shan S Leal Suzanne S Al-Salem Mahmoud M El-Shanti Hatem H
American journal of human genetics 20090205 2
Ectopia lentis is a genetically heterogeneous condition that is characterized by the subluxation of the lens resulting from the disruption of the zonular fibers. Patients with ectopia lentis commonly present with a marked loss in visual acuity in addition to a number of possibly accompanying ocular complications including cataract, myopia, and retinal detachment. We here describe an isolated form of ectopia lentis in a large inbred family that shows autosomal-recessive inheritance. We map the ec ...[more]