Case
SR85
Student Mode
Type 1 Usher Syndrome (IB1a)
Male
Male
Hidden
SR85
Student Mode
Type 1 Usher Syndrome (IB1a)
Male
Male
History
This 8 year old boy noticed decreased vision in dim light on Halloween the previous year. He had early difficulty hearing and received a cochlear implant in the right year at age 1 and the left ear at age 3. He did not learn to walk until 22 months. He has a homoplasmic mitochondrial variant A1115G known to be associated with aminoglycoside hearing loss (it is uncertain if he ever received a single dose of aminoglycoside).
Pedigree
| Age at visit: 8 years |
| Age at visit: 16 years |
| Age at visit: 17 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Type 1 Usher Syndrome | MYO7A | Gln1798Stop CAG>TAG | Ile539 ins1atC | AR |
Disease:
Gene:
Allele 1:
Gln1798Stop CAG>TAG
Allele 2:
Ile539 ins1atC
Inheritance:
AR