Case
SR703
Student Mode
Leber Congenital Amaurosis (IA2a)
Female
Female
Hidden
SR703
Student Mode
Leber Congenital Amaurosis (IA2a)
Female
Female
Highlighted Images
| Age at visit: 11 years | |
| OD | OS |
|---|---|
History
This eleven year old female has had poor vision and nystagmus since birth. However, she is able to see some high contrast targets, such as, the border of the sidewalk and the grass and can even see a white soccer ball on grass.
Pedigree
| Age at visit: 5 years |
| Age at visit: 6 years |
| Age at visit: 11 years |
| Age at visit: 16 years |
| Age at visit: 19 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Leber Congenital Amaurosis | AIPL1 | IVS2-2 A>G | Trp278Stop TGG>TGA | AR |
Disease:
Gene:
Allele 1:
IVS2-2 A>G
Allele 2:
Trp278Stop TGG>TGA
Inheritance:
AR