Phenotype #0000116893

Individual ID 00144115
Associated disease -
Phenotype details Age 54; Age diagnosis 39; symptom: Night blindness since early childhood; visual acuity: R HM L HM; lens status: NS cataract; Fundoscopy results: Optic disc pallor, severely attenuated vessels, extensive atrophic RPE changes involving both periphery and posterior poles with bone spicules.
Diagnosis/Initial retinitis pigmentosa
Inheritance Isolated (sporadic)
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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