SR1753

XL Retinoschisis (IIIB1)

Male

Male

SR1753

XL Retinoschisis (IIIB1)

Male

Male

Highlighted Images

Age at visit: 41 years
OD OS

History

This 41-year-old man complains that reading is becoming more difficult, even up close. He was first diagnosed with an eye problem at age 5, when he failed a school vision screening test. He has a family history that includes multiple affected males on his mother's side of the family.

Pedigree

Age at visit: 24 years
Age at visit: 41 years
Age at visit: 42 years
Age at visit: 48 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Retinoschisis RS1 Tyr89Cys TAT>TGT   XL
Disease:
Gene:
Allele 1:
Tyr89Cys TAT>TGT
Allele 2:
 
Inheritance:
XL
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