Phenotype #0000308281

Individual ID 00416561
Associated disease -
Phenotype details best corrected visual acuity right, left eye: 0.5, 0.6; refractive error: right, left eye: -1.75 DS , -2.25 DS; fundus appearance both eyes: macular degeneration, waxy optic disk, artery attenuation, pigment deposits; electroretinogram: diminished; visual field right, left eye: <15 deg, <15 deg
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite retinitis pigmentosa
Age/Examination 50y (50 years)
Age/Diagnosis -
Age/Onset 22y
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-09-05 14:10:11 +02:00 (CEST)
Date last edited N/A

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