Phenotype #0000305399

Individual ID 00413425
Associated disease -
Phenotype details best corrected visual acuity right/left eye: 0.01 / 0.01; stage: advanced; fundus: elliptical enlargement of retinal atrophy within the vascular arcades; fundus autofluorescence: loss of autofluorescence at retinal atrophy area with hyper-autofluorescence around the area; optical coherence tomography, ellipsoid zone line: disrupted, thinning of outer retinal layers: present; visual field testing (Goldmann perimetry): not done; full field electroretinography: not done
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite cone-rod dystrophy
Age/Examination 65y (65 years)
Age/Diagnosis -
Age/Onset 18y
Phenotype/Onset reduced visual acuity, central visual field loss
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-07-18 13:24:40 +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.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.