Phenotype #0000308315

Individual ID 00416595
Associated disease -
Phenotype details best corrected visual acuity right / left eye: 0.8 / 0.8, 0.1; refractive error: right, left eye: not available, not available; fundus appearance both eyes: macular degeneration, waxy optic disk, artery attenuation, pigment deposits; electroretinogram: diminished; visual field, V-4e: 45 (9-36); full-field electroretinogram amplitude (uV), rod: non-recordable, cone: 12; Goldmann-Weeker's dark adaptation, elevation of rod final threshold in log units: 2.9; Farnsworth D-15 colour vision test: no defect
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite retinitis pigmentosa
Age/Examination 62y (62 years)
Age/Diagnosis -
Age/Onset 30y
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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