Phenotype #0000053519

Individual ID 00016848
Associated disease CORD
Inheritance Familial, autosomal recessive
Diagnosis/Initial -
Age/Examination 50y (50 years)
Diagnosis/Definite -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Phenotype details RCD diagnosed in late teens; 35y-night blindness followed by changes in midperipheral visual fields/undetectable responses in full-field electroretinogram by approximately; 50y-overweight, complained of moderate hearing difficulties; best-corrected visual acuity 20/800 (R), 20/640 (L); kinetic visual-field test revealed decreased central retinal sensitivity, bilateral peripheral-field constriction; typical RCD fundus changeswith additional macular thinning
Protein -
Owner name Marianne Vos (LOVD-team)
Database submission license No license selected
Created by Johan den Dunnen
Date created 2016-06-19 11:06:28 +02:00 (CEST)
Date last edited N/A

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