Clinical characterization of CNGB1-related autosomal recessive retinitis pigmentosa
Importance There are limited published data on the phenotype of retinitis pigmentosa (RP)
related toCNGB1variants. These data are needed both for prognostic counseling of patients
and for understanding potential treatment windows. Objective To describe the detailed
clinical and molecular genetic findings in a series of patients with RP with likely pathogenic
variants inCNGB1. Design, Setting, and Participants In this case series, 10 patients from 9
families underwent full ophthalmologic examination. Molecular investigations included …
related toCNGB1variants. These data are needed both for prognostic counseling of patients
and for understanding potential treatment windows. Objective To describe the detailed
clinical and molecular genetic findings in a series of patients with RP with likely pathogenic
variants inCNGB1. Design, Setting, and Participants In this case series, 10 patients from 9
families underwent full ophthalmologic examination. Molecular investigations included …