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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Vydáno v:Am J Ophthalmol Case Rep
Hlavní autoři: Alshamrani, Abdulaziz A., Raddadi, Osama, Schatz, Patrik, Lenzner, Steffen, Neuhaus, Christine, Azzam, Eman, Abdelkader, Ehab
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2020
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7315105/
https://ncbi.nlm.nih.gov/pubmed/32613137
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajoc.2020.100780
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