Global Variome shared LOVD

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

Phenotype #0000301325 Individual ID 00409207 Associated disease - Phenotype details night blindness: 2-3y, visual field constriction: 25y, decreased visual acuity: 40y; ophthalmic examination at age 40: visual acuity right, left eye: 8/105/10, biomicroscopy: normal, visual field: loss of upper visual field, fundus: pale disc, arteriolar constriction, bone spicule pigmentation, macula: normal, electroretinogram: extinguished Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-05 13:07:17 +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.