Global Variome shared LOVD

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

Phenotype #0000304953 Individual ID 00412967 Associated disease - Phenotype details best corrected visual acuity right, left eye: 20/200, 20/200; spherical equivalent refraction: -2.00, -2.00; lens status: cortical and nuclear cataract; electroretinogram, scotopic: normal, photopic: normal; Goldmann perimetry: central scotoma Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite macular dystrophy Age/Examination 69y (69 years) Age/Diagnosis - Age/Onset 50y Phenotype/Onset decrease in visual acuity 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.