Phenotype #0000298705

Individual ID 00406207
Associated disease -
Phenotype details chief complaint: reduced visual acuity, best corrected visual acuity right/left eye: 1 / 0,2, refractive errors (diopters) right/left eye: 0,5 / -1.5; fundus: macular atrophy, fundus autofluorescence: area of low density at the central retina, ring of high density, foveal sparing, spectral domain optical coherence tomography: outer retinal disruption at the macula, outer retinal disruption at in the peri-macula
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite cone-rod dystrophy
Age/Examination 71y (71 years)
Age/Diagnosis -
Age/Onset 56y
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-03-25 16:05:43 +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.