Phenotype #0000305395

Individual ID 00413421
Associated disease -
Phenotype details best corrected visual acuity right/left eye: 0.2 / 0.2; stage: advanced; fundus: extention of the retinal atrophy in direction to the optic disc and inferior arcade vessel; 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): absolute central scotoma; full field electroretinography: rod: decreased b-wave, combined: normal a-wave and decreased b-wave, cone and 30-Hz flickers: non- recordable
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite cone-rod dystrophy
Age/Examination 40y (40 years)
Age/Diagnosis -
Age/Onset 3y
Phenotype/Onset reduced visual acuity
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.