Phenotype #0000305020

Individual ID	00413039
Associated disease	-
Phenotype details	disease course: slight progressive reduction of visual acuity from 20/20 at age 18 years; first subjective changes at age 23y; visual acuity right; left eye: 20/32; 20/32; refractive errora (sph/cyl) right; left eye: -0.75/-0.25; -0.25/-0.50; color vision (confusion index) right; left eye: 1.78; 1.81; dark adaptation: slightly elevated (.5 log unit) final threshold; electroretinogram: scotopic: rod response just below the lower (5th) percentile range of unaffected, mixed rod/cone response (standard flash), slightly reduced; it normal, b/a-wave ratio markedly reduced (""negative"" erg), photopic: markedly reduced, prolonged implicit times; anterior segment: normal; fundus: slight mottling of the pigment epithelium in the foveal region, otherwise inconspic
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	cone dystrophy
Age/Examination	33y (33 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-07-08 10:58:46 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD