Case
SR715
Student Mode
Leber Congenital Amaurosis (IA2a)
Female
Female
Hidden
SR715
Student Mode
Leber Congenital Amaurosis (IA2a)
Female
Female
Highlighted Images
| Age at visit: 7 years | |
| OD | OS |
|---|---|
Pedigree
| Age at visit: 7 years |
| Age at visit: 11 years |
| Age at visit: 14 years |
| Age at visit: 16 years |
| Age at visit: 18 years |
| Age at visit: 20 years |
| Age at visit: 24 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Leber Congenital Amaurosis | CEP290 | IVS26+1655 A>G | Glu1483 del4gAGAA | AR |
Disease:
Gene:
Allele 1:
IVS26+1655 A>G
Allele 2:
Glu1483 del4gAGAA
Inheritance:
AR