The Cone Photoreceptor Mosaic in Aniridia: Within-Family Phenotype-Genotype Discordance.

ABSTRACT:

Purpose

Investigate in vivo cone photoreceptor structure in familial aniridia caused by deletion in the PAX6 gene to elucidate the complexity of between-individual variation in retinal phenotype.

Design

Descriptive case-control study.

Participants

Eight persons with congenital aniridia (40-66 yrs) from 1 family and 33 normal control participants (14-69 yrs), including 7 unaffected family members (14-53 yrs).

Methods

DNA was isolated from saliva samples and used in polymerase chain reaction analysis to amplify and sequence exons and intron or exon junctions of the PAX6 gene. High-resolution retinal images were acquired with OCT and adaptive optics scanning light ophthalmoscopy. Cone density (CD; in cones per square millimeter) and mosaic regularity were estimate

SUBMITTER: Pedersen HR 

PROVIDER: S-EPMC6557282 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature