Case
SR1740
Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Male
Male
Hidden
SR1740
Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Male
Male
History
This 32 year old man first had difficulty tracking a baseball against a bright sky when he was 18 years old. He is more light sensitive than his peers and can identify several Ishihara color plates correctly with each eye.
Pedigree
| Age at visit: 32 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Cone and Cone Rod Dystrophy | GUCA1A | Asp148Glu GAT>GAA | AD |
Disease:
Gene:
Allele 1:
Asp148Glu GAT>GAA
Allele 2:
Inheritance:
AD