Case
SR2624
Student Mode
Leber Congenital Amaurosis (IA2a)
Female
Female
Hidden
SR2624
Student Mode
Leber Congenital Amaurosis (IA2a)
Female
Female
Highlighted Images
| Age at visit: 26 years | |
| OD | OS |
|---|---|
History
This 26 year old woman had frequent rubbing of her eyes and seemed to have no recognition of her mother's face in her first 6 months of life.
Pedigree
| Age at visit: 26 years |
| Age at visit: 28 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Leber Congenital Amaurosis | CEP290 | Ser1056 ins1tcA | IVS26+1655 A>G | AR |
Disease:
Gene:
Allele 1:
Ser1056 ins1tcA
Allele 2:
IVS26+1655 A>G
Inheritance:
AR