Phenotype #0000281533

Individual ID 00387978
Associated disease -
Phenotype details see paper; ..., childhood onset, nyctalopia; posterior subcapsular cataract; optic disc waxy pallor; severe vascular attenuation; intraretinal cystoid spaces; bone-spicule intraretinal pigment migration; visual field constriction 8° centrally; ffERG severe scotopic and photopic attenuation
Diagnosis/Initial retinitis pigmentosa
Inheritance Familial, autosomal recessive
Diagnosis/Definite RP45
Age/Examination 46y (46 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-11-01 10:27:24 +01:00 (CET)
Date last edited N/A

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