Case
SR2157
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR2157
Student Mode
AR Stargardt Disease (IIA)
Female
Female
History
This 56 year old woman had normal vision until her mid 30s when she noticed some metamorphopsia in both eyes. She also feels that her color vision is not normal.
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Leu2027Phe CTC>TTC | IVS40+5 G>A | AR |
Disease:
Gene:
Allele 1:
Leu2027Phe CTC>TTC
Allele 2:
IVS40+5 G>A
Inheritance:
AR