PAX6 Genotypic and Retinal Phenotypic Characterization in Congenital Aniridia.

ABSTRACT: Purpose:To investigate the association between PAX6 genotype and macular morphology in congenital aniridia. Methods:The study included 37 participants (15 males) with congenital aniridia (aged 10-72 years) and 58 age-matched normal controls (18 males). DNA was isolated from saliva samples. PAX6 exons, intron/exon junctions, and known regulatory regions were amplified in PCR and sequenced. Multiplex ligation-dependent probe amplification (MLPA) was performed to detect larger deletions or duplications in PAX6 or known cis-regulatory regions. Spectral-domain optical coherence tomography images were acquired and segmented semiautomatically. Mean thicknesses were calculated for inner and outer retinal layers within the macula along nasal and temporal meridians. Results:Mutations in PAX6 or regu

SUBMITTER: Pedersen HR 

PROVIDER: S-EPMC7405610 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature