Phenotype #0000302205

Individual ID 00410096
Associated disease -
Phenotype details best corrected visual acuity (2004) right, left eye: not tested; best corrected visual acuity right, left eye (2016): 0.1, 0.16; Goldmann visual field: V4e < 10deg, I4e < 5deg; macular map optical coherence tomography: Central macular edema with vitreoretinal traction, otherwise attenuation; rod full field electroretinography amplitudes (uV): extinguished; cone full field electroretinography amplitudes (uV) right, left eye: residual responses 0.5, 2; multifocal electroretinography amplitudes (uV): reduced; cGMP concentration nM: 170
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinitis pigmentosa
Age/Examination 46y (46 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 2022-05-18 20:43:18 +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.