Phenotype #0000308318

Individual ID 00416598
Associated disease -
Phenotype details best corrected visual acuity right / left eye: 0.5 / 0.6, 1; refractive error: right, left eye:-0.50 DS , -1.00 DS/-0.50 DCx120; fundus appearance both eyes: normal; electroretinogram: reduced; visual field, V-4e: 44 (5-19); full-field electroretinogram amplitude (uV), rod: not available; Goldmann-Weeker's dark adaptation, elevation of rod final threshold in log units: 2.9; Farnsworth D-15 colour vision test: tritan
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite retinitis pigmentosa
Age/Examination 78y (78 years)
Age/Diagnosis -
Age/Onset 50y
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 18:40:22 +02:00 (CEST)
Date last edited N/A

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