Phenotype #0000307578

Individual ID	00415800
Associated disease	-
Phenotype details	best corrected visual acuity right, left eye: 20/400, 20/400; refraction right, left eye: +4.0 +0.5/70deg, +4.0 +0.5/70deg; fundus: normal; optical coherence tomography: no data; fundus autofluorescence: no data; color vision (test method): achromat (Ishihara); full-field electroretinogram: photopic: no response flicker: no response scotopic: normal; photophobia: yes; nystagmus: yes
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	achromatopsia
Age/Examination	6y (6 years)
Age/Diagnosis	-
Age/Onset	5y
Phenotype/Onset	5y: poor vision and color vision, photophobia
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-08-16 14:45:23 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD