Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 22-06-2022

Symbol	OPA9
Location	22q13.2
Name	optic atrophy 9
Corresponding gene	ACO2
Main clinical features	either isolated or syndromic optic neuropathy bilateral pallor of optic disks, with extinguished visual-evoked potentials and electroretinograms also mutated in autosomal inherited optic neuropathies (PMID: 34056600))
Genetic determination	autosomal recessive
	autosomal dominant
Prevalence	. ACO2 as the third most frequently mutated gene in autosomal inherited optic neuropathies (PMID: 34056600)
Function/system disorder	eye
Type	disease

Remark(s)

ACO2 deficiency can induce a disturbance that secondarily affects the activity of ACO1 via substrate accumulation, iron-sulfur overload or iron metabolism modification (PMID: 25351951))