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

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

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 s...

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Bibliographic Details
Main Authors: Susanne Roosing, Frans P. M. Cremers, Frans C. C. Riemslag, Marijke N. Zonneveld-Vrieling, Herman E. Talsma, Francoise J. M. Klessens-Godfroy, Anneke I. den Hollander, L. Ingeborgh van den Born
Format: Article
Language:English
Published: MDPI AG 2017-08-01
Series:Genes
Subjects:
oligocone trichromacy
cone dysfunction syndrome
CEP290
ciliopathies
long-term follow up
Online Access:https://www.mdpi.com/2073-4425/8/8/208

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