Phenotype #0000054853

Individual ID 00075078
Associated disease CORD
Inheritance Isolated (sporadic)
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis -
Age/Onset <49y
Phenotype/Onset loss of central vision
Phenotype details cone-rod dystrophy (HP:0000510); Maculopathy, characterized by a bull’s eye pattern or granular alterations of the macular RPE. Visual field testing usually shows a central scotoma of 25 deg in right eye and 10 deg in left eye. ERG recordings in CRD either show reduction or absence of cone responses in the presence of quantitatively less reduction in rod responses, or an equal impairment of both photoreceptor systems. Diffuse, granular RPE changes in macula, peripheral pigmentations.
Protein -
Owner name Stéphanie Cornelis
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Stéphanie Cornelis
Date created 2016-02-22 12:22:09 +01:00 (CET)
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.