1. Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene
- Author
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Marija Volk, Borut Peterlin, Nina Kobal, Marko Hawlina, Tjaša Krašovec, Maja Sustar, and Ana Fakin
- Subjects
0301 basic medicine ,Retinal degeneration ,Male ,genetic structures ,lcsh:Chemistry ,0302 clinical medicine ,Medicine ,Child ,CSNB ,lcsh:QH301-705.5 ,Spectroscopy ,Congenital stationary night blindness ,congenital stationary night blindness ,sector retinitis pigmentosa ,biology ,medicine.diagnostic_test ,fundus autofluorescence ,RHO ,General Medicine ,Middle Aged ,Computer Science Applications ,Pedigree ,inherited retinal dystrophy ,Phenotype ,Rhodopsin ,ERG ,Female ,medicine.symptom ,Erg ,Adult ,medicine.medical_specialty ,RP ,Adolescent ,Fundus Oculi ,Article ,Catalysis ,Nyctalopia ,Inorganic Chemistry ,03 medical and health sciences ,Young Adult ,constitutively active mutation ,Ophthalmology ,retinitis pigmentosa ,Retinitis pigmentosa ,Humans ,Genetic Predisposition to Disease ,Physical and Theoretical Chemistry ,G90D ,Molecular Biology ,Macular edema ,Aged ,business.industry ,Organic Chemistry ,FAF ,medicine.disease ,eye diseases ,030104 developmental biology ,lcsh:Biology (General) ,lcsh:QD1-999 ,rhodopsin ,OCT ,Mutation ,030221 ophthalmology & optometry ,biology.protein ,retinal degeneration ,pericentral retinitis pigmentosa ,electroretinography ,business ,Electroretinography - Abstract
Mutations in rhodopsin gene (RHO) are a frequent cause of retinitis pigmentosa (RP) and less often, congenital stationary night blindness (CSNB). Mutation p.G90D has previously been associated with CSNB based on the examination of one family. This study screened 60 patients. Out of these 60 patients, 32 were affected and a full characterization was conducted in 15 patients. We described the clinical characteristics of these 15 patients (12 male, median age 42 years, range 8–71) from three families including visual field (Campus Goldmann), fundus autofluorescence (FAF), optical coherence tomography (OCT) and electrophysiology. Phenotypes were classified into four categories: CSNB (N = 3, 20%) sector RP (N = 3, 20%), pericentral RP (N = 1, 6.7%) and classic RP (N = 8, 53.3% (8/15)). The phenotypes were not associated with family, sex or age (Kruskal–Wallis, p >, 0.05), however, cystoid macular edema (CME) was observed only in one family. Among the subjects reporting nyctalopia, 69% (22/32) were male. The clinical characteristics of the largest p.G90D cohort so far showed a large frequency of progressive retinal degeneration with 53.3% developing RP, contrary to the previous report.
- Published
- 2021
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