Case
SR2425
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Hidden
SR2425
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
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 |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinitis Pigmentosa | RPGR | Asn62Lys AAC>AAA | XL |