SR646

AR Optic Neuropathy (IIIC2b)

Female

Female

SR646

AR Optic Neuropathy (IIIC2b)

Female

Female

Highlighted Images

Age at visit: 10 years
OD OS

Age at visit: 3 years
Age at visit: 6 years
Age at visit: 7 years
Age at visit: 9 years
Age at visit: 10 years
Age at visit: 11 years
Age at visit: 14 years
Age at visit: 17 years
Age at visit: 20 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Optic Neuropathy ACO2 Leu738Pro CTG>CCG Ile82Thr ATT>ACT AR
Gene:
Allele 1:
Leu738Pro CTG>CCG
Allele 2:
Ile82Thr ATT>ACT
Inheritance:
AR
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