Phenotype #0000299937

Individual ID 00407807
Associated disease -
Phenotype details night blindness (20 y), field constriction (25 y), photophobia (30 y); best corrected visual acuity right, left eye: 10/200, 10/200, refractive error right, left eye: +1.0, +0.5, visual field right // left eye: concentric constriction to 3deg (V/4e), electroretinogram: scotopic and photopic: noise level, anterior segment and fundus: pseudophakic (bilateral), optic nerve atrophy, vessel attenuation, macular retinal pigment epithelium atrophy, peripheral retinal pigment epithelium atrophy, and hyperpigmentation
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Leber congenital amaurosis/early-onset severe retinal dystrophy
Age/Examination 44y (44 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 2022-04-08 20:30:05 +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.