Phenotype #0000304017

Individual ID 00412001
Associated disease -
Phenotype details best corrected visual acuity, refraction right; left eye:20/20, +2.50 (-2.75; 20deg); 20/20, +2.75 (-2.50; 170deg); no cataract; fundus: bone spicules in lower sector epiretinal membrane both eyes; optical coherence tomography: normal foveal lamination; visual field: isopter V4 80degN, 90degT; electroretinogram: 30% of normal value for scotopic responses; 80% of normal value for photo pic responses; no implicit time shift
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite retinitis pigmentosa
Age/Examination 52y (52 years)
Age/Diagnosis 30y
Age/Onset 30y
Phenotype/Onset peripheral visual field impairment at 30; no 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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