Global Variome shared LOVD

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Phenotype #0000300845 Individual ID 00408726 Associated disease - Phenotype details 15y: history of impaired night vision; best corrected visual acuity right, left eye: 20/15, 20/20 left eye; visual field: full fields with the v4e isopter, but constriction to 30 degrees centrally with the i4e isopter; . electroretinography: scotopic barely recordable, photopic responses 50% reduction of amplitude and normal waveform; fundus: slight optic disc pallor and gliosis; attenuated vessels; foveal reflex intact in both eyes, retinal pigment epithelium intact in both maculae; peripheral retina: fine bone spicule pigmentation and fine granularity to the retinal pigment epithelium Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset - Phenotype/Onset night blindness Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-26 12:48:47 +02:00 (CEST) Date last edited N/A

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