SR403

XL Retinitis Pigmentosa (IA1ai)

Male

Male

SR403

XL Retinitis Pigmentosa (IA1ai)

Male

Male

Highlighted Images

Age at visit: 66 years
OD OS

Pedigree

Age at visit: 66 years
Age at visit: 69 years
Age at visit: 71 years
Age at visit: 73 years
Age at visit: 74 years
Age at visit: 76 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Retinitis Pigmentosa RPGR Glu726Stop GAG>TAG   XL
Gene:
Allele 1:
Glu726Stop GAG>TAG
Allele 2:
 
Inheritance:
XL
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