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StoneRounds Disease Atlas SR35

SR35

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AD Optic Neuropathy (IIIC1a)

Male

Male

SR35

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AD Optic Neuropathy (IIIC1a)

Male

Male

Highlighted Images

Age at visit: 17 years
OD OS
20/70 -2
20/200

Pedigree

Age at visit: 5 years
Age at visit: 13 years
Age at visit: 17 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Optic Neuropathy OPA1 IVS28-2 del4cAGTT   AD
Disease:
AD Optic Neuropathy
Gene:
OPA1
Allele 1:
IVS28-2 del4cAGTT
Allele 2:
 
Inheritance:
AD
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