SR1790

AD Optic Neuropathy (IIIC1a)

Male

Male

SR1790

AD Optic Neuropathy (IIIC1a)

Male

Male

Highlighted Images

Age at visit: 52 years
OD OS

Pedigree

Age at visit: 42 years
Age at visit: 52 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Optic Neuropathy ACO2 Ser274 ins1tC   AD
Gene:
Allele 1:
Ser274 ins1tC
Allele 2:
 
Inheritance:
AD
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