Phenotype #0000304011

Individual ID 00411995
Associated disease -
Phenotype details best corrected visual acuity, refraction right; left eye:20/20; 20/20; no cataract; fundus: bone spicules in lower sector; optical coherence tomography: normal foveal lamination; visual field: central scotoma (15deg) isopter V4; electroretinogram: 50% of normal value for scotopic responses; 60% of normal value for photopic responses: no implicit time sh
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite retinitis pigmentosa
Age/Examination 39y (39 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset mild night blindness
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-06-21 13:19:22 +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.