Case
SR2292
Student Mode
Leber Congenital Amaurosis (IA2a)
Female
Female
Hidden
SR2292
Student Mode
Leber Congenital Amaurosis (IA2a)
Female
Female
Highlighted Images
| Age at visit: 18 years | |
| OD | OS |
|---|---|
History
This 18 year old woman was noted to have nystagmus shortly after birth. She has no recollection of any formed vision at any time in her life.
Pedigree
| Age at visit: 18 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Leber Congenital Amaurosis | NMNAT1 | Glu257Lys GAG>AAG | Chr1:10034708-10042182del | AR |
Disease:
Gene:
Allele 1:
Glu257Lys GAG>AAG
Allele 2:
Chr1:10034708-10042182del
Inheritance:
AR