Phenotype #0000307875

Individual ID	00416109
Associated disease	-
Phenotype details	best corrected visual acuity right/left eye: 0.08/0.1; congenital nystagmus was reported that still persists; myopic with a refraction error (SE) of -8.00/ -7.38; complete lack of color discrimination on various test platforms; central scotoma consistent with a loss of multifocal electroretinogram responses for central test fields; electroretinograms: extinguished responses under photopic and 30-Hz flicker stimulation, scotopic electroretinogram responses essentially normal.; funduscopy: atrophy of the retinal pigment epithelium in the macula - atypical feature in patients with achromatopsia, rather a clinical feature in patients with progressive cone dystrophy
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	complete achromatopsia
Age/Examination	24y (24 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	photophobia and reduced visual acuity since earliest infancy
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-08-22 20:42:34 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD