Case
SR2709
Student Mode
Leber Congenital Amaurosis (IA2a)
Female
Female
Hidden
SR2709
Student Mode
Leber Congenital Amaurosis (IA2a)
Female
Female
Highlighted Images
| Age at visit: 29 years | |
| OD | OS |
|---|---|
History
This 29 year old woman had roving eye movements noted a few months after birth. She has no affected relatives. She has not had any perception of light her entire life. It is interesting that she has a nociceptive response to bright light (melanopsin ganglion cells).
Pedigree
| Age at visit: 29 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Leber Congenital Amaurosis | GUCY2D | Met476 ins10aTGGGGCTGGC | Leu865 del1ttG | AR |
Disease:
Gene:
Allele 1:
Met476 ins10aTGGGGCTGGC
Allele 2:
Leu865 del1ttG
Inheritance:
AR