SR682

XL Retinitis Pigmentosa (IA1ai)

Male

Male

SR682

XL Retinitis Pigmentosa (IA1ai)

Male

Male

Highlighted Images

Age at visit: 15 years
OD OS

History

This 15 year old male was 7 weeks premature and spent 3 weeks in the hospital. He had 3 diopters of anisometropia at age 3. He was correctable to 20/30 OU at age 5. He manifested some difficulty seeing in dim light when he was 9 years old.

Pedigree

Age at visit: 15 years
Age at visit: 16 years
Age at visit: 19 years
Age at visit: 22 years
Age at visit: 24 years
Age at visit: 26 years
Age at visit: 28 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Retinitis Pigmentosa RPGR Gly893 del2gaaGG   XL
Gene:
Allele 1:
Gly893 del2gaaGG
Allele 2:
 
Inheritance:
XL
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