RESUMEN

PURPOSE: To evaluate the clinical features associated with the RP10 form of autosomal-dominant retinitis pigmentosa in 11 affected members of various ages from one family with a defined IMPDH1 mutation (Asp226Asn). DESIGN: Prospective, observational case series. METHODS: Visual function assessment included visual acuity, color vision, visual field, dark adaptometry, full-field electroretinography (ffERG), and multifocal electroretinography (mfERG). Ophthalmologic examinations, fundus photography, and optical coherence tomographic scans were also performed. Blood samples were obtained to screen for basic immune function. RESULTS: Visual acuity was slightly reduced in the teenage years and substantially reduced in association with cystoid macular edema (CME) at all ages. Color defects were observed in three patients (one teen, two adults). Dark-adapted thresholds were elevated. Visual fields were markedly constricted by age 40 (

Asunto(s)

IMP Deshidrogenasa/genética , Mutación Missense , Retinitis Pigmentosa/genética , Adolescente , Adulto , Defectos de la Visión Cromática/genética , Defectos de la Visión Cromática/patología , Electrorretinografía , Femenino , Genes Dominantes , Humanos , Masculino , Persona de Mediana Edad , Linaje , Fenotipo , Estudios Prospectivos , Retinitis Pigmentosa/enzimología , Retinitis Pigmentosa/patología , Tomografía de Coherencia Óptica , Trastornos de la Visión/genética , Trastornos de la Visión/patología , Agudeza Visual , Campos Visuales