Case
SR1930
Student Mode
Type 3 Usher Syndrome (IB1c)
Female
Female
Hidden
SR1930
Student Mode
Type 3 Usher Syndrome (IB1c)
Female
Female
History
This 9 year old girl was born by emergency C-section and was in the neonatal ICU for 10 weeks (on a ventilator for 9 days). Although she passed her newborn hearing screen, a retest at age 2 revealed moderate hearing loss and she underwent cochlear implant. At 30 months of age she had the flu and was hospitalized on a ventilator for 7 days. After extubation she could not see anything at all out of either eye but regained some vision slowly over the following several weeks. Following that hospitalization, she has developed very high fever every time she contracts a viral illness.
Pedigree
| Age at visit: 10 years |
| Age at visit: 13 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Type 3 Usher Syndrome | HARS1 | Tyr454Ser TAC>TCC | Tyr454Ser TAC>TCC | AR |
Disease:
Gene:
Allele 1:
Tyr454Ser TAC>TCC
Allele 2:
Tyr454Ser TAC>TCC
Inheritance:
AR