Case
SR1058
Student Mode
Bardet Biedl Syndrome (IB2)
Male
Male
Hidden
SR1058
Student Mode
Bardet Biedl Syndrome (IB2)
Male
Male
Visit at age: 10 years
Fundus Photography - Right - 20/50
Exemplar
Fundus Photography - Left - 20/50 -1
Exemplar
Optical Coherence Tomography - Right - 20/50
Exemplar
Optical Coherence Tomography - Left - 20/50 -1
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/50
Exemplar
Infrared Fundus Photograph - Left - 20/50 -1
Exemplar
Visit at age: 14 years
Goldmann Visual Field - Right - 20/100
Exemplar
Goldmann Visual Field - Left - 20/300
Exemplar
Visit at age: 16 years
Goldmann Visual Field - Right - 10/120 +1
Exemplar
Goldmann Visual Field - Left - 10/100 -1
Exemplar
Optical Coherence Tomography - Right - 10/120 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/100 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/120 +1
Exemplar
Infrared Fundus Photograph - Left - 10/100 -1
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Bardet Biedl Syndrome | MKKS | Gln282Stop CAG>TAG | Trp478Arg TGG>CGG | AR |
Disease:
Gene:
Allele 1:
Gln282Stop CAG>TAG
Allele 2:
Trp478Arg TGG>CGG
Inheritance:
AR