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StoneRounds Disease Atlas SR2702

SR2702

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SECORD (IA2b)

Male

Male

SR2702

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SECORD (IA2b)

Male

Male

Highlighted Images

Age at visit: 36 years
OD OS
10/300 sc
10/225 sc

History

This 36 year old man has had poor acuity his entire life. Nystagmus was noticed shortly after birth. He was prescribed glasses for hyperopia but they did not help very much. He developed photophobia in his late teens.

Pedigree

Age at visit: 36 years
Age at visit: 37 years
Age at visit: 38 years
Age at visit: 39 years
Age at visit: 39 years (Visit 2)

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
SECORD OTX2 Tyr197Stop TAT>TAG   AD
Disease:
SECORD
Gene:
OTX2
Allele 1:
Tyr197Stop TAT>TAG
Allele 2:
 
Inheritance:
AD
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