Phenotype #0000307682

Individual ID 00415910
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 0.45, 0.35; refraction right, left eye: myopic prescription; Ishihara colour vision test: test plate only; macular appearance on funduscopy: subtle retinal pigment epithelium mottling in the fovea; fundus autofluorescence: parafoveal area of increased autofluorescence; spectral domain optical coherence tomography - fovea: focal disruption of reflective band at inner/outer segment junction
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite cone dystrophy with supernormal rod electroretinogram
Age/Examination 16y (16 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-08-17 21:52:02 +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.