SR2407
Type 2 Usher Syndrome (IB1b)
Male
Male
SR2407
Type 2 Usher Syndrome (IB1b)
Male
Male
Visit at age: 60 years
Fundus Photography - Right - 20/200
Exemplar
Fundus Photography - Left - 20/50
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Type 2 Usher Syndrome | USH2A | Trp3521Arg TGG>CGG | Lys4077 del2aaAG | AR |
Disease:
Gene:
Allele 1:
Trp3521Arg TGG>CGG
Allele 2:
Lys4077 del2aaAG
Inheritance:
AR