Phenotype #0000337187

Individual ID 00447998
Associated disease -
Phenotype details see paper; ..., 22y-nyctalopia; best corrected visual acuity OU 20/30 (30y, OU hand motion (54y); 35y-Goldmann VF (OU about 5 central degrees remaining; 54y-waxy pallor optic nerve head, attenuation retinal vessels, confluent pigment changes in mid-periphery, macular atrophy; full field ERG 30y-diminished cone and rod waves; 30y-color vision abnormalities
Diagnosis/Initial atypical retinitis pigmentosa
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Susanne Roosing
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-02-09 14:03:00 +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.