Case
SR3012
Student Mode
Retinitis Pigmentosa with Cognitive Impairment (IB11)
Female
Female
Hidden
SR3012
Student Mode
Retinitis Pigmentosa with Cognitive Impairment (IB11)
Female
Female
Visit at age: 57 years
Fundus Photography - Right - 20/80 -1
Exemplar
Fundus Photography - Left - 20/125 +1
Exemplar
Fundus Montage - Right - 20/80 -1
Exemplar
Goldmann Visual Field - Right - 20/80 -1
Exemplar
Goldmann Visual Field - Left - 20/125 +1
Exemplar
Optical Coherence Tomography - Right - 20/80 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125 +1
Exemplar
Infrared Fundus Photograph - Right - 20/80 -1
Exemplar
Infrared Fundus Photograph - Left - 20/125 +1
Exemplar
Visit at age: 59 years
Optical Coherence Tomography - Right - 20/80 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80 -2
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/80 +2
Exemplar
Infrared Fundus Photograph - Left - 20/80 -2
Exemplar
Visit at age: 61 years
Optical Coherence Tomography - Right - 20/200
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200
Exemplar
Infrared Fundus Photograph - Left - 20/100
Exemplar
Visit at age: 64 years
Optical Coherence Tomography - Right - 20/125 -1
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/160 +2
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/125 -1
Exemplar
Infrared Fundus Photograph - Left - 20/160 +2
Exemplar
Visit at age: 66 years
Optical Coherence Tomography - Right - 10/125 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/200 -3
Exemplar
Infrared Fundus Photograph - Right - 10/125 -2
Exemplar
Infrared Fundus Photograph - Left - 10/200 -3
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Retinitis Pigmentosa with Cognitive Impairment | HK1 | Ser445Leu TCG>TTG | AD |
Gene:
Allele 1:
Ser445Leu TCG>TTG
Allele 2:
Inheritance:
AD