Phenotype #0000304029

Individual ID 00412013
Associated disease -
Phenotype details best corrected visual acuity, refraction right; left eye:20/40, +0.75(-0.25)95; 20/40 pl(-1.25)90deg; no cataract; fundus: bone spicules 360deg; some areas of central atrophy; no ring on autofluorescence; optical coherence tomography: foveal thinning; visual field: isopter V4 20deg ; electroretinogram: not detectable
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite retinitis pigmentosa
Age/Examination 51y (51 years)
Age/Diagnosis 28y
Age/Onset <18y
Phenotype/Onset night blindness since childhood
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-06-21 13:19:22 +02:00 (CEST)
Date last edited N/A

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