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Article

Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy.

Investigative ophthalmology & visual science - 1 Nov 2019

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

Abstract excerpt

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 families. Methods: Funduscopy, optical coherence tomography (OCT), electroretinography (ERG), color vision, and visual...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31743939
DOI: 10.1167/iovs.19-27263
PMCID: PMC6944245

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