Global Variome shared LOVD

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

Phenotype #0000222703 Individual ID 00289071 Associated disease - Phenotype details difficulty reading, mild decreased visual acuity, bilateral visual field concentric constriction; 41y-cataract surgery; visual acuity right eye 20/60, left eye 20/80; intraocular pressures right 12, left 10; visual fields “central islands” bilaterally, retina showed classic pattern of mid-peripheral pattern of pigmentation with attenuated vessels; optical coherence tomography showed no edema; no other relevant medical problems Diagnosis/Initial retinitis pigmentosa Inheritance Isolated (sporadic) Diagnosis/Definite RP83 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset difficulty reading Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-02-29 08:28:36 +01:00 (CET) Date last edited 2020-02-29 08:33:13 +01:00 (CET)

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