Case
SR39
Student Mode
Spinocerebellar Ataxia (IID4)
Male
Male
Hidden
SR39
Student Mode
Spinocerebellar Ataxia (IID4)
Male
Male
Visit at age: 13 years
Goldmann Visual Field - Right - 20/50 -2
Exemplar
Goldmann Visual Field - Left - 20/50 -2
Exemplar
Visit at age: 15 years
Goldmann Visual Field - Right - 20/160
Exemplar
Goldmann Visual Field - Left - 20/125 -2
Exemplar
Visit at age: 17 years
Fundus Photography - Right - 10/63
Exemplar
Fundus Photography - Left - 10/63
Exemplar
Goldmann Visual Field - Right - 10/63
Exemplar
Goldmann Visual Field - Left - 10/63
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Spinocerebellar Ataxia | ATXN7 | Repeat Expansion | AD |