Table I.

Clinical characteristics of patients with compound heterozygous optic atrophy 1 gene mutations.

Parameter	Ethnicity
	Korean	French	French	French	French	American	American	German
Reference	The present study	Bonneau et al (6)	Bonneau et al (6)	Bonneau et al (6)	Bonneau et al (6)	Schaaf et al (5)	Schaaf et al (5)	Pesch et al (4)
Gender	Male	Female	Female	Male	Male	Male	Female	Female
Age at exam (years)	10	6	11	14	16	8	3	30
Age at onset	12 months	42 months	12 months	18 months	3 years	12 months	6 months	Childhood
Mutation
Amino acid change	Arg905Gln	Ile382Met	Val402Met	Ile382Met	Ile382Met	Ile382Met	Ile382Met	Glu270Lys
	Leu620fs	Arg557a	Val903Glyfsa	Arg824a	Glu487Lys	Val903Glyfsa	Val903Glyfsa	Arg290Trp
Domain	GED	GTPase	GTPase	GTPase	GTPase	GTPase	GTPase	GTPase
	MID	MID	GED	MID	GTPase	GED	GED	GTPase
Clinical manifestation
Optic atrophy	Global pallor	Yes	Yes	Yes	Yes	Diffuse severe	Diffuse severe	Global pallor
Visual acuity	Blind	0.01/0.01	Unknown	0.01/0.01	Blind	Severely reduced	Unknown	0.2/0.2
Cataracts	Yes	Unknown	Unknown	No	Unknown	No	No	No
Peripheral neuropathy	Yes	Yes	Yes	Yes	Yes	Unknown	Unknown	Unknown
Ataxia	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Unknown
Laboratory findings
VEP	Absent	Prolonged	Prolonged	Prolonged	Prolonged	Unknown	Unknown	Prolonged
NCS	Axonal sensorimotor	Axonal sensory	Axonal sensorimotor	Axonal sensory	Axonal sensorimotor	Unknown	Unknown	Unknown
Brain MRI	Normal	Normal	Cerebellar atrophy	Cerebellar atrophy	Cerebellar atrophy	Normal	Unknown	Unknown
Lower leg MRI	Fatty infiltration	NA	NA	NA	NA	NA	NA	NA
Nerve biopsy	Axonal neuropathy	NA	NA	NA	NA	NA	NA	NA

^aTranslation termination codon. GED, GTPase effector domain; MID, middle domain; VEP, visual evoked potentials; NCS, nerve conduction studies; MRI, magnetic resonance imaging.