Global Variome shared LOVD

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

Phenotype #0000308318 Individual ID 00416598 Associated disease - Phenotype details best corrected visual acuity right / left eye: 0.5 / 0.6, 1; refractive error: right, left eye:-0.50 DS , -1.00 DS/-0.50 DCx120; fundus appearance both eyes: normal; electroretinogram: reduced; visual field, V-4e: 44 (5-19); full-field electroretinogram amplitude (uV), rod: not available; Goldmann-Weeker's dark adaptation, elevation of rod final threshold in log units: 2.9; Farnsworth D-15 colour vision test: tritan Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 78y (78 years) Age/Diagnosis - Age/Onset 50y 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.