Phenotype #0000307032

Individual ID 00415234
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 20/100 (+7.25 -2.25 5deg), 20/200 (+7.25 -2.25 5deg); fundus: small retinal pigment epithelium-defect in the fovea; optical coherence tomography: foveal hypoplasia, missing foveal pit, inner/outer segment and retinal pigment epithelium disruption; color vision: achromatopsia; visual field: relative central scotoma; scotopic / photopic electroretinogram: normal /non-detectable; glare: yes; nystagmus: nystagmus at birth, currently no nystagmus; progression: no
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite achromatopsia
Age/Examination 22y (22 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 2022-08-10 13:22:10 +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.