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StoneRounds Disease Atlas SR74

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SR74

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Batten Disease (IB3)

Male

Male

SR74

Ladder View Download View

Batten Disease (IB3)

Male

Male

Visit at age: 7 years

Fundus Photography - Right - 20/200 sc

Exemplar

Fundus Photography - Left - 10/160 sc

Exemplar

Optical Coherence Tomography - Right - 20/200 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 10/160 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200 sc

Exemplar

Infrared Fundus Photograph - Left - 10/160 sc

Exemplar

Visit at age: 7 years (Visit 2)

Optical Coherence Tomography - Right - <1/700 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 3/200 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - <1/700 sc

Exemplar

Infrared Fundus Photograph - Left - 3/200 sc

Exemplar

Visit at age: 8 years

Optical Coherence Tomography - Right - <1/700 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - <1/700 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - <1/700 sc

Exemplar

Infrared Fundus Photograph - Left - <1/700 sc

Exemplar

Visit at age: 9 years

Optical Coherence Tomography - Right - No Light Perception

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

Optical Coherence Tomography - Left - No Light Perception

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - No Light Perception

Exemplar

Infrared Fundus Photograph - Left - No Light Perception

Exemplar

Visit at age: 11 years

Optical Coherence Tomography - Right - No Light Perception

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - No Light Perception

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - No Light Perception

Exemplar

Infrared Fundus Photograph - Left - No Light Perception

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Batten Disease PPT1 Thr75Pro ACC>CCC IVS6-1 G>T AR
Disease:
Batten Disease
Gene:
PPT1
Allele 1:
Thr75Pro ACC>CCC
Allele 2:
IVS6-1 G>T
Inheritance:
AR
Cite this case