Case
SR2343
Student Mode
Cone and Cone Rod Dystrophy (IA1b)
Male
Male
Hidden
SR2343
Student Mode
Cone and Cone Rod Dystrophy (IA1b)
Male
Male
Visit at age: 41 years
Fundus Photography - Right - 20/400
Exemplar
Fundus Photography - Left - 20/25 -2
Exemplar
Goldmann Visual Field - Right - 20/400
Exemplar
Goldmann Visual Field - Left - 20/25 -2
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Cone and Cone Rod Dystrophy | CRX | Cys202 del1tG | AD |