Case
SR46
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Hidden
SR46
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
History
This 18 year old man has been night blind since early childhood. Subtle nystagmus was noted in the first year of life. The patient has had relatively high myopia since age 5.
Pedigree
| Age at visit: 22 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinitis Pigmentosa | RP2 | Arg120Stop CGA>TGA | XL |