Case
SR544
Student Mode
Type 3 Usher Syndrome (IB1c)
Male
Male
Hidden
SR544
Student Mode
Type 3 Usher Syndrome (IB1c)
Male
Male
Visit at age: 67 years
Fundus Photography - Right - 20/63
Exemplar
Fundus Photography - Left - Hand Motion 1'
Exemplar
Fundus Montage - Right - 20/63
Exemplar
Fundus Montage - Left - Hand Motion 1'
Exemplar
Goldmann Visual Field - Right - 20/63
Exemplar
Optical Coherence Tomography - Right - 20/63
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Hand Motion 1'
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/63
Exemplar
Infrared Fundus Photograph - Left - Hand Motion 1'
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Type 3 Usher Syndrome | CLRN1 | Asn48Lys AAT>AAG | Asn48Lys AAT>AAG | AR |
Disease:
Gene:
Allele 1:
Asn48Lys AAT>AAG
Allele 2:
Asn48Lys AAT>AAG
Inheritance:
AR