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

PURPOSE: Investigate in-vivo cone photoreceptor structure in familial aniridia caused by a 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 (5 males;...

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Udgivet i:Ophthalmol Retina
Main Authors: Pedersen, Hilde R., Neitz, Maureen, Gilson, Stuart J., Landsend, Erlend C. S., Utheim, Øygunn Aas, Utheim, Tor Paaske, Baraas, Rigmor C.
Format: Artigo
Sprog:Inglês
Udgivet: 2019
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6557282/
https://ncbi.nlm.nih.gov/pubmed/31174676
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.oret.2019.01.020
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