PAX6 analysis of two sporadic patients from southern China with classic aniridia.

ABSTRACT:

Purpose

To investigate the paired box 6 (PAX6) gene in two sporadic patients from southern China presenting with classic aniridia.

Methods

The two sporadic patients underwent complete physical and ophthalmic examinations. Genomic DNA was extracted from the leukocytes of the peripheral blood collected from the families of the two sporadic patients and 100 unrelated control subjects from the same population. Exons 4-13 of PAX6 were amplified by polymerase chain reaction (PCR) and sequenced directly. The ophthalmic examinations included best-corrected visual acuity, slit-lamp examination, fundus examination, optical coherence tomography, and Pentacam and Goldmann perimetry.

Results

The two patients were affected with aniridia accompanied by nystagmus. A heterozygous PAX6

SUBMITTER: Lin Y 

PROVIDER: S-EPMC3425573 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature