Global Variome shared LOVD

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

Phenotype #0000308317 Individual ID 00416597 Associated disease - Phenotype details best corrected visual acuity right / left eye: 0.5 / 1.0, 0.5; refractive error: right, left eye: -1.50 DS , -2.00 DS; fundus appearance both eyes: macular degeneration, waxy optic disk, artery attenuation, pigment deposits; electroretinogram: diminished; visual field, V-4e: 58 (9-27); full-field electroretinogram amplitude (uV), rod: 17, cone: 17; Goldmann-Weeker's dark adaptation, elevation of rod final threshold in log units: 2; Farnsworth D-15 colour vision test: minor defect Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 55y (55 years) Age/Diagnosis - Age/Onset <18y 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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.