Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy

PURPOSE: Cone rod dystrophy (CRD) is a group of inherited retinopathies characterized by the loss of cone and rod photoreceptor cells, which results in poor vision. This study aims to clinically and genetically characterize the segregating CRD phenotype in two large, consanguineous Pakistani familie...

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Veröffentlicht in:Invest Ophthalmol Vis Sci
Hauptverfasser: Sheikh, Shakeel A., Sisk, Robert A., Schiavon, Cara R., Waryah, Yar M., Usmani, Muhammad A., Steel, David H., Sayer, John A., Narsani, Ashok K., Hufnagel, Robert B., Riazuddin, Saima, Kahn, Richard A., Waryah, Ali M., Ahmed, Zubair M.
Format: Artigo
Sprache:Inglês
Veröffentlicht: The Association for Research in Vision and Ophthalmology 2019
Schlagworte:
Retina
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6944245/
https://ncbi.nlm.nih.gov/pubmed/31743939
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.19-27263
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