Phenotype #0000291694

Individual ID	00398576
Associated disease	-
Phenotype details	presented shortly after birth with nystagmus; fascinated by bright lights but performed poorly in a bright environment and appeared to see better in the dark; examination at 9 months of age revealed absence of fixation, and she could not recognize faces in the light; small-amplitude, rapid, pendular nystagmus; paradoxical pupillary response; anterior segment, ocular media, and fundus examination were normal; cycloplegic refraction was +8.00 dioptrically sphere in both eyes.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	achromatopsia
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-01-06 19:53:49 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD