Case
SR52
Student Mode
Batten Disease (IB3)
Female
Female
Hidden
SR52
Student Mode
Batten Disease (IB3)
Female
Female
History
The parents of this 7 year old girl noticed that she began to hold books closer to her eyes when reading about six months ago. As a younger child her vision seemed to be perfectly normal.
Pedigree
| Age at visit: 7 years (Visit 2) |
| Age at visit: 8 years |
| Age at visit: 8 years (Visit 2) |
| Age at visit: 9 years |
| Age at visit: 10 years |
| Age at visit: 11 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Batten Disease | CLN3 | Deletion Exons 9-10 | Deletion Exons 9-10 | AR |
Disease:
Gene:
Allele 1:
Deletion Exons 9-10
Allele 2:
Deletion Exons 9-10
Inheritance:
AR