Phenotype #0000326914

Individual ID 00436830
Associated disease RD
Phenotype details fundus macular atrophy; FF-ERG scotopic mildly reduced, photopic mildly reduced; fundus foveolar hyperautofluorescence surrounded by mottled hypo-autofluorescence with hyperautofluorescent border; OCT foveal thinning due to outer retinal atrophy, temporal peripapillary retinal nerve fiber layer thinning
Diagnosis/Initial macular dystrophy with cone-rod dystrophy
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 23y (23 years)
Age/Diagnosis 14y
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Tamar Ben-Yosef
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Tamar Ben-Yosef
Date created 2023-10-10 11:15:57 +02:00 (CEST)
Date last edited 2024-02-16 13:55:02 +01:00 (CET)

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.