Case
SR2291
Student Mode
Pseudoxanthoma Elasticum (IID2)
Female
Female
Hidden
SR2291
Student Mode
Pseudoxanthoma Elasticum (IID2)
Female
Female
Visit at age: 32 years
Fundus Photography - Right - 20/15
Exemplar
Fundus Photography - Left - 20/15 -1
Exemplar
Visit at age: 37 years
Fundus Photography - Right - 20/15
Exemplar
Fundus Photography - Left - 20/15 -1
Exemplar
Fundus Montage - Right - 20/15
Exemplar
Fundus Montage - Left - 20/15 -1
Exemplar
Visit at age: 40 years
Goldmann Visual Field - Right - 20/15
Exemplar
Goldmann Visual Field - Left - 20/15 -1
Exemplar
Visit at age: 44 years
Fundus Photography - Right - 20/15
Exemplar
Fundus Photography - Left - 20/20 +1
Exemplar
Fundus Montage - Right - 20/15
Exemplar
Fundus Montage - Left - 20/20 +1
Exemplar
Optical Coherence Tomography - Right - 20/15
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 +1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/15
Exemplar
Infrared Fundus Photograph - Left - 20/20 +1
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Pseudoxanthoma Elasticum | ABCC6 | Asn370Asp AAC>GAC | Arg1221Cys CGC>TGC | AR |
Disease:
Gene:
Allele 1:
Asn370Asp AAC>GAC
Allele 2:
Arg1221Cys CGC>TGC
Inheritance:
AR