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).
Age at visit: 8 years |
Age at visit: 16 years |
Age at visit: 17 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Type 1 Usher Syndrome | MYO7A | Gln1798Stop CAG>TAG | Ile539 ins1atC | AR |