Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000308316 Individual ID 00416596 Associated disease - Phenotype details best corrected visual acuity right / left eye: 0.6 / 0.8, 0.6; refractive error: right, left eye: -1.75 DS , -2.25 DS; fundus appearance both eyes: macular degeneration, waxy optic disk, artery attenuation, pigment deposits; electroretinogram: diminished; visual field, V-4e: 62 (10-23); full-field electroretinogram amplitude (uV), rod: 21, cone: 22; Goldmann-Weeker's dark adaptation, elevation of rod final threshold in log units: 1.9; Farnsworth D-15 colour vision test: no defect Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 51y (51 years) Age/Diagnosis - Age/Onset 20y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-09-05 18:40:22 +02:00 (CEST) Date last edited N/A

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