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StoneRounds Disease Atlas SR736

SR736

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AD Optic Neuropathy (IIIC1a)

Male

Male

SR736

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AD Optic Neuropathy (IIIC1a)

Male

Male

Highlighted Images

Age at visit: 31 years
OD OS
20/200 -1
20/200 -2

History

This 31 year old man has had poor acuity since early childhood.

Pedigree

Age at visit: 16 years
Age at visit: 19 years
Age at visit: 26 years
Age at visit: 31 years
Age at visit: 36 years

Diagnosis & molecular findings

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