SR2274 Grid | StoneRounds

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SR2274

Pseudoxanthoma Elasticum (IID2)

Male

Male

SR2274

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

Exemplar

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:

Pseudoxanthoma Elasticum

Gene:

Allele 1:

Arg1141Stop CGA>TGA

Allele 2:

Arg1141Stop CGA>TGA

Inheritance:

AR

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