Phenotype #0000308322

Individual ID 00416602
Associated disease -
Phenotype details best corrected visual acuity right / left eye: 1.2 / 1.2, other: II-4e: 55, II-2e: 36; full-field electroretinogram amplitude (uV), rod: 101, cone: 100; Goldmann-Weeker's dark adaptation, elevation of rod final threshold in log units: 0; Farnsworth D-15 colour vision test: no defect
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite retinitis pigmentosa
Age/Examination 23y (23 years)
Age/Diagnosis -
Age/Onset 20y
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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