Global Variome shared LOVD

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

Phenotype #0000312621 Individual ID 00421382 Associated disease - Phenotype details best corrected visual acuity right, left eye: 6/9, 6/18; pattern electroretinography: undetectable; electroretinography: dark adapted 10 electroretinogram a wave & light adapted electroretinograms: borderline amplitudes & normal peak time; multifocal electroretinography: bilaterally subnormal over central region; fundus appearance: outer retinal atrophy, macular hypopigmentation; peripapillary atrophy Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite late-onset macular dystrophy Age/Examination 73y (73 years) Age/Diagnosis - Age/Onset 40y Phenotype/Onset reduced central vision, constant photopsias, photoaversion Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-11-04 12:16:27 +01:00 (CET) Date last edited 2022-11-04 12:25:57 +01:00 (CET)

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