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GENATLAS PHENOTYPE

last update : 08-06-2022

Symbol	ONAR1
Location	22q13.2
Name	autosomal recessive optic neuropathy, non syndromic 1
Corresponding gene	MCAT
Main clinical features	sudden, or gradual, insidious vision loss bilateral, in infancy or adulthood at brain MRI, optic nerve hypersignals extending to the chiasma retinal nerve fibre layer optical coherence tomography revealed a dramatic generalized reduction in optic nerve fibres LHON-like optic neuropathy
Genetic determination	autosomal recessive
Function/system disorder
Type	disease

Remark(s)