Phenotype #0000116757

Individual ID 00143979
Associated disease -
Phenotype details At age 29: Poor night vision; BCVA R 6/9 L 6/9; visual evoked potential R/L normal; fundus Mildly pale optic disc; generalized RPE changes without macular involvement; mild bone spicules
Diagnosis/Initial retinitis pigmentosa
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 19y
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)

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