Case
SR1062
Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Male
Male
Hidden
SR1062
Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Male
Male
History
This 20 year old man has had poor central vision and photophobia since age 5. He wears sunglasses at all times, even when watching television. However, he can walk in the neighborhood at night without a flashlight.
Pedigree
| Age at visit: 20 years |
| Age at visit: 23 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Cone and Cone Rod Dystrophy | GUCY2D | Arg838Pro CGC>CCC | AD |
Disease:
Gene:
Allele 1:
Arg838Pro CGC>CCC
Allele 2:
Inheritance:
AD