Case
SR561
Student Mode
Leber Congenital Amaurosis (IA2a)
Male
Male
Hidden
SR561
Student Mode
Leber Congenital Amaurosis (IA2a)
Male
Male
Highlighted Images
| Age at visit: 58 years | |
| OD | OS |
|---|---|
History
This 58 year old man has had nystagmus and very poor vision his entire life. He is still able to read some text on a computer screen with reading glasses and very short working distance.
Pedigree
| Age at visit: 54 years |
| Age at visit: 58 years |
| Age at visit: 60 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Leber Congenital Amaurosis | NMNAT1 | Glu257Lys GAG>AAG | Arg207Trp CGG>TGG | AR |
Disease:
Gene:
Allele 1:
Glu257Lys GAG>AAG
Allele 2:
Arg207Trp CGG>TGG
Inheritance:
AR