Case
SR25
Student Mode
XL Retinoschisis (IIIB1)
Male
Male
Hidden
SR25
Student Mode
XL Retinoschisis (IIIB1)
Male
Male
History
This 11 year old male has moderately reduced visual acuity that was recently discovered on a routine school screening.
| Refraction OD: | -0.25 +1.00 x 170 |
|---|---|
| Refraction OS: | -0.75 +1.00 x 170 |
Pedigree
Teaching Points
The clinical features favoring the diagnosis of X-linked retinoschisis in this patient include stellate macular schisis visible on ophthalmoscopy, cystic spaces in the inner nuclear layer visible on OCT, and a similarly affected maternal grandfather.
| Age at visit: 11 years |
| Age at visit: 12 years |
| Age at visit: 13 years (Visit 2) |
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinoschisis | RS1 | Pro203Arg CCG>CGG | XL |