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

dataset
posted on 21.05.2019 by Hilde Røgeberg Pedersen, Maureen Neitz, Stuart Gilson, Erlend Landsend, Oeygunn Utheim, Tor Paaske Utheim, Rigmor C. Baraas

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

Funding

Supported by the Norwegian Association of Aniridia (Aniridi Norge). The genetic analysis portion of this work was conducted by the University of Washington and was supported by Research to Prevent Blindness, and National Institutes of Health/National Eye Institute Grant P30EY001730. HRP holds a PhD position funded by the Norwegian Ministry of Education and Research.

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