Case
SR256
Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Female
Female
Hidden
SR256
Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Female
Female
History
This 60 year old woman first started having difficulty with her central vision in her late 30's. She has no night blindness at all. She is moderately photophobic.
Pedigree
| Age at visit: 58 years |
| Age at visit: 60 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Cone and Cone Rod Dystrophy | PROM1 | Arg373Cys CGC>TGC | AD |
Disease:
Gene:
Allele 1:
Arg373Cys CGC>TGC
Allele 2:
Inheritance:
AD