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.
(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