Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants

Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants

Purpose: To report a severe phenotype of retinitis pigmentosa associated with novel mutations in CNGB1. Observations: Six siblings, age range 50–75 years old, were examined using optical coherence tomography and fundus autofluorescene, electroretinogram testing, Goldman visual field testing, and gen...

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Bibliographic Details
Main Authors: Abdulaziz A. Alshamrani, Osama Raddadi, Patrik Schatz, Steffen Lenzner, Christine Neuhaus, Eman Azzam, Ehab Abdelkader
Format: Article
Language:English
Published: Elsevier 2020-09-01
Series:American Journal of Ophthalmology Case Reports
Subjects:
Retinitis pigmentosa
Rod-cone dystrophy
CNGB1
Novel variant
Online Access:http://www.sciencedirect.com/science/article/pii/S2451993618305048

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http://www.sciencedirect.com/science/article/pii/S2451993618305048

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