Case
SR82
Student Mode
Leber Congenital Amaurosis (IA2a)
Female
Female
Hidden
SR82
Student Mode
Leber Congenital Amaurosis (IA2a)
Female
Female
Highlighted Images
| Age at visit: 10 years | |
| OD | OS |
|---|---|
History
This 5 year old girl with nystagmus and very poor acuity since shortly after birth. She may have had some vision in the first year of life, but she is unsure of that.
Pedigree
| Age at visit: 4 years |
| Age at visit: 7 years |
| Age at visit: 10 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Leber Congenital Amaurosis | CRX | Tyr191 del1cccT | AD |