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...
Main Authors: | , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2017-08-01
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Series: | Genes |
Subjects: | |
Online Access: | https://www.mdpi.com/2073-4425/8/8/208 |