Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos.

ABSTRACT:

Purpose

Autosomal dominant nanophthalmos is an inherited eye disorder characterized by a structurally normal but smaller eye. Patients with nanophthalmos have high hyperopia (far-sightedness), a greater incidence of angle-closure glaucoma, and increased risk of surgical complications. In this study, the clinical features and the genetic basis of nanophthalmos were investigated in two large autosomal dominant nanophthalmos pedigrees.

Methods

Fourteen members of a Caucasian pedigree from the United States and 15 members of a pedigree from the Mariana Islands enrolled in a genetic study of nanophthalmos and contributed DNA samples. Twenty of 29 family members underwent eye examinations that included measurement of axial eye length and/or refractive error. The genetic basis of n

SUBMITTER: Khorram D 

PROVIDER: S-EPMC4556162 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature