Case
SR869
Student Mode
Occult Macular Dystrophy (IIE)
Female
Female
Hidden
SR869
Student Mode
Occult Macular Dystrophy (IIE)
Female
Female
Visit at age: 70 years
Fundus Photography - Right - 20/80
Exemplar
Fundus Photography - Left - 20/250
Exemplar
Goldmann Visual Field - Right - 20/80
Exemplar
Goldmann Visual Field - Left - 20/250
Exemplar
Visit at age: 72 years
Goldmann Visual Field - Right - 20/200
Exemplar
Goldmann Visual Field - Left - 20/400
Exemplar
Optical Coherence Tomography - Right - 20/200
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/400
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200
Exemplar
Infrared Fundus Photograph - Left - 20/400
Exemplar
Visit at age: 75 years
Goldmann Visual Field - Right - 20/250
Exemplar
Goldmann Visual Field - Left - 20/250
Exemplar
Optical Coherence Tomography - Right - 20/250
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/250
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/250
Exemplar
Infrared Fundus Photograph - Left - 20/250
Exemplar
Visit at age: 77 years
Goldmann Visual Field - Right - 20/150
Exemplar
Goldmann Visual Field - Left - 20/400
Exemplar
Optical Coherence Tomography - Right - 20/150
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/400
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/150
Exemplar
Infrared Fundus Photograph - Left - 20/400
Exemplar
Blue Autofluorescence - Right - 20/150
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Blue Autofluorescence - Left - 20/400
Exemplar
Visit at age: 79 years
Goldmann Visual Field - Right - 20/125 -1
Exemplar
Goldmann Visual Field - Left - 20/400
Exemplar
Optical Coherence Tomography - Right - 20/125 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/400
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 -1
Exemplar
Infrared Fundus Photograph - Left - 20/400
Exemplar
Blue Autofluorescence - Right - 20/125 -1
Exemplar
Blue Autofluorescence - Left - 20/400
Exemplar
Visit at age: 82 years
Optical Coherence Tomography - Right - 20/300
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/150
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/300
Exemplar
Infrared Fundus Photograph - Left - 20/150
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Occult Macular Dystrophy | RP1L1 | Arg45Trp CGG>TGG | AD |