Case
SR418
Student Mode
Recessive Retinoschisis (IIIB2)
Female
Female
Hidden
SR418
Student Mode
Recessive Retinoschisis (IIIB2)
Female
Female
History
This 15 year old female first had trouble seeing at distance at age 13.
Pedigree
| Age at visit: 15 years |
| Age at visit: 15 years (Visit 2) |
| Age at visit: 16 years |
| Age at visit: 17 years |
| Age at visit: 18 years |
| Age at visit: 20 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Recessive Retinoschisis | CRB1 | Asp165 del9cagGATGGAATT | Arg764Cys CGT>TGT | AR |
Disease:
Gene:
Allele 1:
Asp165 del9cagGATGGAATT
Allele 2:
Arg764Cys CGT>TGT
Inheritance:
AR