Case
SR100
Student Mode
Type 1 Usher Syndrome (IB1a)
Male
Male
Hidden
SR100
Student Mode
Type 1 Usher Syndrome (IB1a)
Male
Male
History
This 14 year old male first noted slightly blurry vision in both eyes in the 3rd grade. He also has some difficulty seeing in dim light. He had cochlear implants at age 1 and at age 3.
Pedigree
| Age at visit: 14 years |
| Age at visit: 15 years |
| Age at visit: 16 years |
| Age at visit: 17 years |
| Age at visit: 18 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Type 1 Usher Syndrome | USH1C | Val72Val GTG>GTA | Thr78 ins1aC | AR |
Disease:
Gene:
Allele 1:
Val72Val GTG>GTA
Allele 2:
Thr78 ins1aC
Inheritance:
AR