Case
SR195
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
Hidden
SR195
Student Mode
XL Retinitis Pigmentosa (IA1ai)
Male
Male
History
This 7 year old boy has had poor night vision since at least age 3. He has a maternal uncle and maternal 2nd cousin with poor vision.
Pedigree
| Age at visit: 7 years (Visit 2) |
| OD | |||
|---|---|---|---|
| Age at visit: 12 years |
| Age at visit: 13 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinitis Pigmentosa | RPGR | Glu956 del1gA | XL |