Global Variome shared LOVD

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

Phenotype #0000308271 Individual ID 00416551 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/80, 20/100, refraction: +1.25/-1.25 x 10 deg, +2.0/-1.5 x 170 deg, further ophthalmic findings: left macular edema and posterior subcapsular cataract, systemic features: none, electroretinogram: scotopic: not performed, photopic: not performed Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination >50y (later than 50 years) Age/Diagnosis - Age/Onset >15y Phenotype/Onset nyctalopia and visual field loss Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-09-05 13:13:43 +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.