SR2425

XL Retinitis Pigmentosa (IA1ai)

Male

Male

SR2425

XL Retinitis Pigmentosa (IA1ai)

Male

Male

Highlighted Images

Age at visit: 13 years
OD OS

History

This 13 year old boy was asymptomatic a year ago when some fundus abnormalities were noticed incidentally on retinal examination. Since then he has noticed that his night vision is not quite as good as his peers.

Pedigree

Age at visit: 13 years
Age at visit: 14 years
Age at visit: 15 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Retinitis Pigmentosa RPGR Asn62Lys AAC>AAA   XL
Gene:
Allele 1:
Asn62Lys AAC>AAA
Allele 2:
 
Inheritance:
XL
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