Global Variome shared LOVD

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Phenotype #0000054872 Individual ID 00075097 Associated disease - Phenotype details retinitis pigmentosa; Visual field defects typically originate in the midperiphery, with gradual enlargement to both the periphery and the center of the retina. Typically, the ERG recordings demonstrate photoreceptor degeneration in a rod–cone pattern. Bone spicules and attenuated vessels. Glaucomatous aspect of left optic disc. Initially ringscotomas, later progressive constriction of visual field. Also, Bjerrum scotomas, more pronounced in the left eye than in the right eye. Diagnosis/Initial retinitis pigmentosa Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset <61y Phenotype/Onset Night blindness Protein - Owner name Stéphanie Cornelis Database submission license Creative Commons Attribution 4.0 International Created by Stéphanie Cornelis Date created 2016-02-22 12:22:09 +01:00 (CET) Date last edited 2020-08-25 10:48:31 +02:00 (CEST)

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