Phenotype #0000304954

Individual ID 00412968
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 20/500, 20/63; spherical equivalent refraction: -5.50, -4.88; lens status: cortical and nuclear cataract, mild posterior subcapsular cataract; electroretinogram, scotopic: normal, photopic: normal; Goldmann perimetry: central scotoma
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite macular dystrophy
Age/Examination 67y (67 years)
Age/Diagnosis -
Age/Onset 45y
Phenotype/Onset metamorphopsia
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-07-07 11:38:31 +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.