Global Variome shared LOVD

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

Phenotype #0000302431 Individual ID 00410327 Associated disease - Phenotype details presentation: asymptomatic; best corrected visual acuity right, left eye: 20/20; 20/20; visual field: not available; fundus features: bilateral peripapillary atrophy & peripheral reticular pigmentation; fundus autofluorescence: reduced peripapillary autofluorescence, reticular pattern of increased autofluorescence, sparing of the posterior pole; optical coherence tomography: preservation of the foveal structure, peripapillary loss of outer retinal layers; electroretinogram: not available Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 60y (60 years) Age/Diagnosis - Age/Onset - Phenotype/Onset asymptomatic Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-24 11:34:37 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.