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.
Age at visit: 13 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
XL Retinitis Pigmentosa | RPGR | Asn62Lys AAC>AAA | XL |