Case
SR32
Student Mode
Bardet Biedl Syndrome (IB2)
Female
Female
Hidden
SR32
Student Mode
Bardet Biedl Syndrome (IB2)
Female
Female
Visit at age: 12 years
Goldmann Visual Field - Right - 20/70
Exemplar
Goldmann Visual Field - Left - 20/800
Exemplar
Visit at age: 18 years
Goldmann Visual Field - Right - 20/200
Exemplar
Goldmann Visual Field - Left - Hand Motion
Exemplar
Visit at age: 21 years
Fundus Photography - Right - 5/200
Exemplar
Fundus Photography - Left - 5/700
Exemplar
Visit at age: 24 years
Goldmann Visual Field - Right - Hand Motion
Exemplar
Goldmann Visual Field - Left - Hand Motion
Exemplar
Visit at age: 25 years
Fundus Photography - Right - Hand Motion
Exemplar
Fundus Photography - Left - Hand Motion
Exemplar
Fundus Montage - Right - Hand Motion
Exemplar
Fundus Montage - Left - Hand Motion
Exemplar
Visit at age: 28 years
Optical Coherence Tomography - Right - Hand Motion
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Hand Motion
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Hand Motion
Exemplar
Infrared Fundus Photograph - Left - Hand Motion
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Bardet Biedl Syndrome | BBS10 | Asn222 ins6TGTTGG | Lys708 del2gttAA | AR |
Disease:
Gene:
Allele 1:
Asn222 ins6TGTTGG
Allele 2:
Lys708 del2gttAA
Inheritance:
AR