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StoneRounds Disease Atlas SR2710

SR2710

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XL Retinoschisis (IIIB1)

Male

Male

SR2710

Grid View Download View

XL Retinoschisis (IIIB1)

Male

Male

Highlighted Images

Age at visit: 6 years
OD OS
10/40
10/40

History

This 6 year old boy began sitting very close to the television at age 2.

Pedigree

Age at visit: 6 years
Age at visit: 6 years (Visit 2)
Age at visit: 7 years
Age at visit: 7 years (Visit 2)
Age at visit: 8 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Retinoschisis RS1 Tyr93Stop TAT>TAG   XL
Disease:
XL Retinoschisis
Gene:
RS1
Allele 1:
Tyr93Stop TAT>TAG
Allele 2:
 
Inheritance:
XL
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