Case
SR2123
Student Mode
Batten Disease (IB3)
Male
Male
Hidden
SR2123
Student Mode
Batten Disease (IB3)
Male
Male
History
This 5 year old male first experienced loss of visual acuity OU in the preceding year. His visual acuity was 20/20 OU at age 3. He is otherwise healthy.
| Refraction OD: | +1.00 sphere |
|---|---|
| Refraction OS: | +1.00 sphere |
Pedigree
Teaching Points
The clinical features favoring the diagnosis of CLN3-associated Batten disease include: 20/20 acuity at age 4 falling to 20/320 by age 5, bulls-eye macular lesions, narrowed retinal arterioles, extensive loss of outer retinal layers on OCT, a similarly affected sister and normally sighted parents.
| Age at visit: 5 years |
| Age at visit: 7 years |
| 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: 9 years (Visit 2) |
| Age at visit: 10 years |
| Age at visit: 10 years (Visit 2) |
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