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StoneRounds Disease Atlas SR4096

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SR4096

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Incontinentia Pigmenti (IIIE5)

Female

Female

SR4096

Ladder View Download View

Incontinentia Pigmenti (IIIE5)

Female

Female

Visit at age: 35 years

Fundus Photography - Right - 20/200 sc

Exemplar

Fundus Montage - Right - 20/200 sc

Exemplar

Goldmann Visual Field - Right - 20/200 sc

Exemplar

Goldmann Visual Field - Left - Light Perception Only

Exemplar

Optical Coherence Tomography - Right - 20/200 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200 sc

Exemplar

B-Scan Ultrasonography - Right - 20/200 sc

Exemplar

B-Scan Ultrasonography - Left - Light Perception Only

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Incontinentia Pigmenti IKBKG Deletion Exons 4-10   AD
Disease:
Incontinentia Pigmenti
Gene:
IKBKG
Allele 1:
Deletion Exons 4-10
Allele 2:
 
Inheritance:
AD
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