Osteogenesis imperfecta and primary open angle glaucoma: genotypic analysis of a new phenotypic association.

ABSTRACT:

Purpose

Osteogenesis imperfecta (OI) is a group of inherited disorders characterized by bone fragility. Ocular findings include blue sclera, low ocular rigidity, and thin corneal thickness. However, there are no documented cases linking OI and primary open angle glaucoma (POAG). In this report, we describe three individuals, one isolated case and two from a multiplex family, with OI type I and POAG.

Methods

Available family members with OI and POAG had a complete eye examination, including visual acuity, intraocular pressure (IOP), pachymetry, slit-lamp exam, dilated fundus exam, and visual fields. DNA from blood samples was sequenced and screened for mutations in COL1A1/2 and myocilin (MYOC).

Results

All subjects had OI type I. Findings of POAG included elevated IOP,

SUBMITTER: Wallace DJ 

PROVIDER: S-EPMC4153423 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature