Case
SR2325
Student Mode
Leber Congenital Amaurosis (IA2a)
Female
Female
Hidden
SR2325
Student Mode
Leber Congenital Amaurosis (IA2a)
Female
Female
Highlighted Images
| Age at visit: 10 years | OD | OS |
|---|---|
History
This 10 year old female has had no light perception in either eye since birth. She is otherwise healthy.
Pedigree
| Age at visit: 5 years |
| Age at visit: 10 years |
| Age at visit: 13 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Leber Congenital Amaurosis | CEP290 | Lys127 del4aaAGAT | IVS26+1655 A>G | AR |
Disease:
Gene:
Allele 1:
Lys127 del4aaAGAT
Allele 2:
IVS26+1655 A>G
Inheritance:
AR