SR1789

AD Optic Neuropathy (IIIC1a)

Male

Male

SR1789

AD Optic Neuropathy (IIIC1a)

Male

Male

Highlighted Images

Age at visit: 26 years (Visit 2)
OD OS

History

This 26 year old man failed a school vision test at age 11 and his vision was not correctable with glasses at that time. He was able to see 4 out of 14 color plates in the right eye and 12 out of 14 color plates in the left eye.

Pedigree

Age at visit: 13 years
Age at visit: 26 years
Age at visit: 26 years (Visit 2)
Age at visit: 27 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Optic Neuropathy OPA1 Lys383Arg AAG>AGG   AD
Gene:
Allele 1:
Lys383Arg AAG>AGG
Allele 2:
 
Inheritance:
AD
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