Global Variome shared LOVD

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

Phenotype #0000304963 Individual ID 00412977 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/50, 20/50; spherical equivalent refraction: -9.38, -10.00; lens status: moderate nuclear cataract; extracted at 55y; electroretinogram, scotopic: nonrecordable (51y), photopic: nonrecordable (51y); Goldmann perimetry: constricted visual field to 10deg with a small temporal residue Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 56y (56 years) Age/Diagnosis - Age/Onset 18y Phenotype/Onset night blindness Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-07-07 11:38:31 +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.