Case
SR1585
Student Mode
XL Retinoschisis (IIIB1)
Male
Male
Hidden
SR1585
Student Mode
XL Retinoschisis (IIIB1)
Male
Male
History
This seven year old boy first came to medical attention when he failed the vision screening in kindergarten.
Pedigree
| Age at visit: 7 years |
| Age at visit: 9 years |
| Age at visit: 10 years |
| Age at visit: 11 years |
| Age at visit: 12 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Retinoschisis | RS1 | Arg141Cys CGC>TGC | XL |