SR1339

XL Retinitis Pigmentosa (IA1ai)

Male

Male

SR1339

XL Retinitis Pigmentosa (IA1ai)

Male

Male

Highlighted Images

Age at visit: 7 years
OD OS

History

This 7-year-old boy is having difficulty seeing the blackboard at school. He was first diagnosed with an eye disease at age 6 or 7, when he failed a school vision screening test. Since his late 20's he has experienced problems in low-light conditions. Although, men and women in his mother's family are affected, there is no male to male transmission and the males are more severely affected than the females.

Pedigree

Age at visit: 7 years
Age at visit: 10 years
Age at visit: 11 years
Age at visit: 12 years
Age at visit: 34 years
Age at visit: 39 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Retinitis Pigmentosa RPGR Gln710Stop CAG>TAG   XL
Gene:
Allele 1:
Gln710Stop CAG>TAG
Allele 2:
 
Inheritance:
XL
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