Case
SR352
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Hidden
SR352
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
History
This 17 year old male has had trouble seeing in dim light his entire life. He has been significantly near sighted since age 2 and his best corrected acuity has been subnormal since age 11.
Pedigree
| Age at visit: 17 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinitis Pigmentosa | RP2 | Deletion Exon 2 | XL |