Global Variome shared LOVD

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

Phenotype #0000312620 Individual ID 00421381 Associated disease - Phenotype details best corrected visual acuity right, left eye: 6/12, 6/9; pattern electroretinography: undetectable; electroretinography: normal; multifocal electroretinography: bilaterally subnormal with relative sparing of the central response on the left; fundus appearance: outer retinal atrophy, macular hypopigmentation; peripapillary atrophy Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite late-onset macular dystrophy Age/Examination 63y (63 years) Age/Diagnosis - Age/Onset 41y Phenotype/Onset difficulty with night vision, blind spots in the central field 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 12:25:39 +01:00 (CET)

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