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.
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
AR Stargardt Disease | ABCA4 | Leu2027Phe CTC>TTC | IVS40+5 G>A | AR |