Case
SR1174
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Female
Female
Hidden
SR1174
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Female
Female
History
This 35 year old woman first noticed some photopsias in the left eye at age 32. She feels the vision in her right eye is normal.
Pedigree
| Age at visit: 35 years |
| Age at visit: 38 years |
| OD | OS | ||
|---|---|---|---|
| OS | |||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinitis Pigmentosa | RPGR | Glu139Stop GAG>TAG | XL |