SR655

AD Optic Neuropathy (IIIC1a)

Female

Female

SR655

AD Optic Neuropathy (IIIC1a)

Female

Female

Highlighted Images

Age at visit: 21 years
OD OS

History

This 21 year old woman had 20/40 vision in the 2nd grade. Her maternal grandfather has never been able to be corrected to better than 20/40.

Pedigree

Age at visit: 21 years
Age at visit: 27 years
Age at visit: 30 years
Age at visit: 32 years
Age at visit: 32 years (Visit 2)

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Optic Neuropathy OPA1 Deletion Exons 28-31   AD
Gene:
Allele 1:
Deletion Exons 28-31
Allele 2:
 
Inheritance:
AD
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