Data Files for: Pedersen et. al. The cone photoreceptor mosaic in aniridia: within-family phenotype-genotype discordance

In this descriptive case-control study we used high-resolution in-vivo retinal imaging to investigate within-family variability in macular retinal layer thicknesses, cone photoreceptor density and mosaic regularity in PAX6-related aniridia compared with normal controls.

Data Files:

(i) OCT measurements of retinal layer thicknesses from seven persons with congenital aniridia

(ii) Measurements of the cone photoreceptor mosaic and density for five persons with PAX6-related congenital aniridia

(iii) Inter- and intra-rater repeated cone counting for the five persons with aniridia