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...

Volledige beschrijving

Bibliografische gegevens
Hoofdauteurs: Abdulaziz A. Alshamrani, Osama Raddadi, Patrik Schatz, Steffen Lenzner, Christine Neuhaus, Eman Azzam, Ehab Abdelkader
Formaat: Artikel
Taal:English
Gepubliceerd in: Elsevier 2020-09-01
Reeks:American Journal of Ophthalmology Case Reports
Onderwerpen:
Retinitis pigmentosa
Rod-cone dystrophy
CNGB1
Novel variant
Online toegang:http://www.sciencedirect.com/science/article/pii/S2451993618305048

Internet

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

Gelijkaardige items