SR1213

XL Retinitis Pigmentosa (IA1ai)

Female

Female

SR1213

XL Retinitis Pigmentosa (IA1ai)

Female

Female

Highlighted Images

Age at visit: 27 years
OD OS

History

This 27 year old woman first noticed difficulty in dim light when she began driving at age 16.

Pedigree

Age at visit: 27 years
Age at visit: 30 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Retinitis Pigmentosa RPGR Gly743 ins1ggA   XL
Gene:
Allele 1:
Gly743 ins1ggA
Allele 2:
 
Inheritance:
XL
Cite this case