Phenotype #0000301037

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00408919
Associated disease	-
Phenotype details	acular changes with atrophy and spicular pigment in the midperiphery. VA was reduced to 20/200, with central scotoma in both eyes
Diagnosis/Initial	leber congenital amaurosis (LCA)
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	poor vision since birth: nystagmus and atrophic lesions in the macular area, with pigment migration
Protein	-
Owner name	LOVD
Database submission license
Created by	Julia Lopez
Date created	2022-04-29 01:04:01 +02:00 (CEST)
Date last edited	N/A

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