Phenotype #0000312643

Individual ID 00421404
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 20/200, 20/30; fundus appearance: central atrophy in right eye and pigment mottling in left eye (later becoming atrophy); near infrared reflectance: foveal hyper- reflectance and surrounding linear areas of hyper- reflectance; fundus autofluorescence: foveal hypo autofluorescence in area of atrophy with surrounding linear or reticular areas of hyper autofluorescence; optical coherence tomography: outer retinal atrophy; electroretinogram within normal limits (skin electrodes), electrooculogram normal (right 260%, left 200%)
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite macular pattern dystrophy
Age/Examination 62y (62 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 2022-11-04 15:42:01 +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.