SR1899 Grid | StoneRounds

JavaScript is disabled.

Without JavaScript enabled, this site will not function properly.
Please follow these instructions in order to enable JavaScript in your browser.

SR1899

Pseudoxanthoma Elasticum (IID2)

Male

Male

SR1899

Pseudoxanthoma Elasticum (IID2)

Male

Male

Visit at age: 49 years

Fundus Photography - Right - 20/15 -2

Exemplar

Fundus Photography - Left - 20/15 -2

Exemplar

Visit at age: 51 years

Fundus Photography - Right - 20/15 -2

Exemplar

Fundus Photography - Left - 20/15 -2

Exemplar

Fluorescein Angiography - Right - 20/15 -2

Exemplar

Fluorescein Angiography - Left - 20/15 -2

Exemplar

Visit at age: 61 years

Fundus Photography - Right - 20/20 -1

Exemplar

Fundus Photography - Left - 20/20 -2

Exemplar

Fundus Montage - Right - 20/20 -1

Exemplar

Fundus Montage - Left - 20/20 -2

Exemplar

Optical Coherence Tomography - Right - 20/20 -1

Exemplar / OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/20 -2

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/20 -1

Exemplar

Infrared Fundus Photograph - Left - 20/20 -2

Exemplar

Fluorescein Angiography - Right - 20/20 -1

Exemplar

Fluorescein Angiography - Left - 20/20 -2

Exemplar

Visit at age: 61 years (Visit 2)

Optical Coherence Tomography - Right - 20/25 +1

Exemplar / OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/25 +3

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/25 +1

Exemplar

Infrared Fundus Photograph - Left - 20/25 +3

Exemplar

Visit at age: 62 years

Optical Coherence Tomography - Right - 20/20 -2

Exemplar / OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/20 -3

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/20 -2

Exemplar

Infrared Fundus Photograph - Left - 20/20 -3

Exemplar

Visit at age: 62 years (Visit 2)

Fundus Photography - Right - 20/50 +1

Exemplar

Fundus Photography - Left - 20/25 -2

Exemplar

Optical Coherence Tomography - Right - 20/50 +1

Exemplar / OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/25 -2

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/50 +1

Exemplar

Infrared Fundus Photograph - Left - 20/25 -2

Exemplar

Visit at age: 62 years (Visit 3)

Optical Coherence Tomography - Right - 20/80

Exemplar / OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/20 -1

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/80

Exemplar

Infrared Fundus Photograph - Left - 20/20 -1

Exemplar

Visit at age: 63 years

Optical Coherence Tomography - Right - 20/50 -1

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/50 -1

Exemplar

Visit at age: 63 years (Visit 2)

Optical Coherence Tomography - Right - 20/50 +2

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/50 +2

Exemplar

Visit at age: 63 years (Visit 3)

Fundus Photography - Right - 20/40 -2

Exemplar

Fundus Photography - Left - 20/20 -2

Exemplar

Optical Coherence Tomography - Right - 20/40 -2

Exemplar / OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/20 -2

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/40 -2

Exemplar

Infrared Fundus Photograph - Left - 20/20 -2

Exemplar

Visit at age: 63 years (Visit 4)

Optical Coherence Tomography - Right - 20/30 -2

Exemplar / OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/25 -1

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/30 -2

Exemplar

Infrared Fundus Photograph - Left - 20/25 -1

Exemplar

Visit at age: 63 years (Visit 5)

Fundus Photography - Right - 20/125

Exemplar

Fundus Photography - Left - 20/25

Exemplar

Optical Coherence Tomography - Right - 20/125

Exemplar / OCT Stack

OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/25

Exemplar / OCT Stack

OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/125

Exemplar

Infrared Fundus Photograph - Left - 20/25

Exemplar

Visit at age: 64 years

Optical Coherence Tomography - Right - 20/60 -2

Exemplar / OCT Stack

OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/60 -2

Exemplar

Visit at age: 64 years (Visit 2)

Optical Coherence Tomography - Right - 20/100

Exemplar / OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/25 +1

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/100

Exemplar

Infrared Fundus Photograph - Left - 20/25 +1

Exemplar

Visit at age: 64 years (Visit 3)

Optical Coherence Tomography - Right - 20/60 -2

Exemplar / OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/20 -3

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/60 -2

Exemplar

Infrared Fundus Photograph - Left - 20/20 -3

Exemplar

Visit at age: 64 years (Visit 4)

Optical Coherence Tomography - Right - 20/100

Exemplar / OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/20 -1

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/100

Exemplar

Infrared Fundus Photograph - Left - 20/20 -1

Exemplar

Visit at age: 64 years (Visit 5)

Optical Coherence Tomography - Right - 20/100 +1

Exemplar / OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/25

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/100 +1

Exemplar

Infrared Fundus Photograph - Left - 20/25

Exemplar

Visit at age: 64 years (Visit 6)

Optical Coherence Tomography - Right - 20/40

Exemplar / OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/20 -2

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/40

Exemplar

Infrared Fundus Photograph - Left - 20/20 -2

Exemplar

Visit at age: 65 years

Optical Coherence Tomography - Right - 20/80

Exemplar / OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/30

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/80

Exemplar

Infrared Fundus Photograph - Left - 20/30

Exemplar

Visit at age: 65 years (Visit 2)

Optical Coherence Tomography - Right - 20/150

Exemplar / OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/40 -2

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/150

Exemplar

Infrared Fundus Photograph - Left - 20/40 -2

Exemplar

Visit at age: 65 years (Visit 3)

Optical Coherence Tomography - Right - 20/150

Exemplar / OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/30

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/150

Exemplar

Infrared Fundus Photograph - Left - 20/30

Exemplar

Visit at age: 65 years (Visit 4)

Optical Coherence Tomography - Right - 20/200 -2

Exemplar / OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/63

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/200 -2

Exemplar

Infrared Fundus Photograph - Left - 20/63

Exemplar

Visit at age: 66 years

Fundus Photography - Right - 20/125

Exemplar

Fundus Photography - Left - 20/125

Exemplar

Optical Coherence Tomography - Right - 20/125

Exemplar / OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/125

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/125

Exemplar

Infrared Fundus Photograph - Left - 20/125

Exemplar

Visit at age: 67 years

Optical Coherence Tomography - Right - 20/200 -3

Exemplar / OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/200 -3

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/200 -3

Exemplar

Infrared Fundus Photograph - Left - 20/200 -3

Exemplar

Visit at age: 68 years

Optical Coherence Tomography - Right - 20/150

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/150

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/150

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
Pseudoxanthoma Elasticum	ABCC6	Arg1141Stop CGA>TGA	Arg1398Stop CGA>TGA	AR

Disease:

Pseudoxanthoma Elasticum

Gene:

Allele 1:

Arg1141Stop CGA>TGA

Allele 2:

Arg1398Stop CGA>TGA

Inheritance:

AR

Cite this case