Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucoma.

ABSTRACT:

Purpose

To describe the genetic and clinical findings in a large Spanish pedigree with nail-patella syndrome (NPS) and to investigate the expressivity of open angle glaucoma (OAG) in the family members.

Methods

All individuals underwent a complete ophthalmologic examination, including optical coherence tomography (OCT) of the optic disc and peripapillary region and ultrasound pachymetry. Screening for mutations in the LMX1B gene was performed by denaturing gradient gel electrophoresis and direct genomic sequencing analysis.

Results

Ten family members had NPS, seven with varying degrees of ocular hypertension (OHT). Only one of these had advanced OAG. The others showed high pachymetry values and OCT retinal nerve fiber layer (RNFL) thickness above the normal values. Sc

SUBMITTER: Milla E 

PROVIDER: S-EPMC2669506 | biostudies-literature | 2007 Apr

REPOSITORIES: biostudies-literature