Phenotype #0000300188

Individual ID 00408059
Associated disease -
Phenotype details onset: 1st decade; photophobia: no; nystagmus: no; decline in visual acuity: 4th decade; myopia: no; keratoconus: no; cataract: yes; papillary pallor: severe; peripapillary atrophy: yes; white flecks: yes; pigment mottling: no; vessel attenuation: no; bone spicules: posterior pole and peripheral retina; chorioretinal atrophy: diffuse; optical coherence tomography: atrophy; visual field: not possible
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinitis pigmentosa
Age/Examination -
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 2022-04-13 12:09:21 +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.