SR2762

XL Retinitis Pigmentosa (IA1ai)

Male

Male

SR2762

XL Retinitis Pigmentosa (IA1ai)

Male

Male

Highlighted Images

Age at visit: 49 years
OD OS

History

This 49 year old man first noticed night blindness at age 6. He was able to read large print through his late teens. He has never driven a car.

Pedigree

Age at visit: 48 years
Age at visit: 49 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Retinitis Pigmentosa RP2 Trp186Stop TGG>TGA   XL
Gene:
Allele 1:
Trp186Stop TGG>TGA
Allele 2:
 
Inheritance:
XL
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