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Article

A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290

22 Aug 2017

Abstract excerpt

Purpose: To identify the gene defect and to study the clinical characteristics and natural course of disease in a family originally diagnosed with oligocone trichromacy (OT), a rare congenital cone dysfunction syndrome. Methods: Extensive clinical and ophthalmologic assessment was performed on two siblings with OT and long-term follow up data were analyzed. Subsequently, whole exome sequencing (WES) and Sanger...

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PMID: 28829391
DOI: 10.3390/genes8080208

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A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290PMID 28829391Read ↗

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Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene.Semantic proximity Read ↗

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Clinical characteristics, imaging findings, and genetic results of a patient with CEP290-related cone-rod dystrophy.Semantic proximity Read ↗

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