Phenotype #0000304013

Individual ID 00411997
Associated disease -
Phenotype details best corrected visual acuity, refraction right; left eye:20/20, +2.50 (-1.25; 170deg); 20/20, +2.00 (-0.50; 50deg); no cataract; fundus: bone spicules in lower sector; optical coherence tomography: normal foveal lamination; visual field: 60degN, 70degT isopter V4 65degN, 70degT; electroretinogram: 20% of normal value for scotopic responses; 35% of normal value for photopic responses; no implicit time shift; 30% of normal value for scotopic responses
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite retinitis pigmentosa
Age/Examination 59y (59 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset night blindness
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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