SR1036
AR Cone and Cone Rod Dystrophy (IA1biii)
Female
Female
SR1036
AR Cone and Cone Rod Dystrophy (IA1biii)
Female
Female
History
This 38 year old woman first noticed a reduction in her visual acuity about 2 years ago. She also feels that her color vision is not as good as it used to be.
Pedigree
| Age at visit: 38 years |
| Age at visit: 38 years (Visit 2) |
| Age at visit: 41 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Cone and Cone Rod Dystrophy | MFSD8 | Glu336Gln GAG>CAG | IVS6+5 G>A | AR |
Disease:
Gene:
Allele 1:
Glu336Gln GAG>CAG
Allele 2:
IVS6+5 G>A
Inheritance:
AR