Phenotype #0000116680

Individual ID 00143902
Associated disease -
Phenotype details Age 56; Age diagnosis 55; symptom: Night blindness in her mid-twenties; visual acuity: R 0,2 L 0,5; lens status: IOL (NS); Fundoscopy results: Normal optic disc, severely attenuated vessels, extensive atrophic RPE changes involving both periphery and posterior poles with bone spicules.
Diagnosis/Initial retinitis pigmentosa
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
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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