Phenotype #0000303227

Individual ID 00411137
Associated disease -
Phenotype details extensive retinal degeneration with more bone spicule pigmentation in the inferior than superior retina and visual field showed loss of the superior field of both eyes. electroretinogram: amplitudes of b-wave in scotopic ERG and single flash ERG reduced, but not extinguished; flicker ERG: moderately diminished amplitude; diagnosed to be type 2 ADRP
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite retinitis pigmentosa
Age/Examination 40y (40 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-06-02 10:52:38 +02:00 (CEST)
Date last edited N/A

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