Case
SR2274
Student Mode
Pseudoxanthoma Elasticum (IID2)
Male
Male
Hidden
SR2274
Student Mode
Pseudoxanthoma Elasticum (IID2)
Male
Male
Visit at age: 23 years
Fundus Photography - Right - 20/20
Exemplar
Fundus Photography - Left - 20/20
Exemplar
Fundus Montage - Right - 20/20
Exemplar
Fundus Montage - Left - 20/20
Exemplar
Goldmann Visual Field - Right - 20/20
Exemplar
Goldmann Visual Field - Left - 20/20
Exemplar
Visit at age: 34 years
Fundus Photography - Right - 20/20
Exemplar
Fundus Photography - Left - 20/20
Exemplar
Optical Coherence Tomography - Right - 20/20
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20
Exemplar
Infrared Fundus Photograph - Left - 20/20
Exemplar
Blue Autofluorescence - Right - 20/20
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Blue Autofluorescence - Left - 20/20
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Pseudoxanthoma Elasticum | ABCC6 | Arg1141Stop CGA>TGA | Arg1141Stop CGA>TGA | AR |
Disease:
Gene:
Allele 1:
Arg1141Stop CGA>TGA
Allele 2:
Arg1141Stop CGA>TGA
Inheritance:
AR