SR303
Bardet Biedl Syndrome (IB2)
Male
Male
SR303
Bardet Biedl Syndrome (IB2)
Male
Male
Visit at age: 37 years
Fundus Photography - Right - Light Perception
Exemplar
Fundus Photography - Left - Light Perception
Exemplar
Fundus Montage - Right - Light Perception
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Fundus Montage - Left - Light Perception
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Goldmann Visual Field - Right - Light Perception
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Goldmann Visual Field - Left - Light Perception
Exemplar
Optical Coherence Tomography - Right - Light Perception
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Light Perception
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Visit at age: 45 years
Optical Coherence Tomography - Right - Light Perception
Exemplar / OCT Stack
Optical Coherence Tomography - Left - Light Perception
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Visit at age: 49 years
Optical Coherence Tomography - Right - Light Perception
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Light Perception
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Visit at age: 51 years
Optical Coherence Tomography - Right - Light Perception
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Light Perception
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Bardet Biedl Syndrome | BBS1 | Met390Arg ATG>AGG, IVS1-2 A>G (SLC26A4) | Met390Arg ATG>AGG, Leu236Pro CTA>CCA (SLC26A4) | AR |
Disease:
Gene:
Allele 1:
Met390Arg ATG>AGG, IVS1-2 A>G (SLC26A4)
Allele 2:
Met390Arg ATG>AGG, Leu236Pro CTA>CCA (SLC26A4)
Inheritance:
AR