Global Variome shared LOVD

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Phenotype #0000304038 Individual ID 00412022 Associated disease - Phenotype details best corrected visual acuity, refraction right; left eye:20/40, -8(-2.75)0deg; 20/40, -8(-2.25)175deg; no cataract; fundus: peripheral retinal pigment epithelium/choroidal atrophy with bone spicules 360deg, small perifoveal ring of hyperautofluorescence; optical coherence tomography: foveal thinning; visual field: isopter III4 170deg horizontal 100deg vertical; electroretinogram: not detectable Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 37y (37 years) Age/Diagnosis 10y 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 2022-06-21 13:19:22 +02:00 (CEST) Date last edited N/A

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