Phenotype #0000116691

Individual ID 00143913
Associated disease -
Phenotype details visual acuity: R 0.7 L 0.3; refraction R(D) -2.25 L(D) -1.5; lens status: right cateract, left pseudophakia; Goldmann Perimetry: OD 8°, OS 8°; fundoscopy: waxy optic disc, attenuated retinal vasulature, RPE changes in periphery and posterior pole, extensive bone spicules throughout periphery; OCT: foveal thinning
Diagnosis/Initial retinitis pigmentosa
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 20y-30y
Phenotype/Onset -
Protein -
Owner name Rob W.J. Collin
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2017-11-28 22:45:32 +01:00 (CET)
Date last edited 2020-08-25 10:48:31 +02:00 (CEST)

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.