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StoneRounds Disease Atlas SR1852

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SR1852

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von Hippel Lindau (IIID1)

Male

Male

SR1852

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von Hippel Lindau (IIID1)

Male

Male

Visit at age: 16 years

Fundus Photography - Right - 20/15 sc

Exemplar

Fundus Photography - Left - 20/15 -2 sc

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Fundus Montage - Right - 20/15 sc

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Fundus Montage - Left - 20/15 -2 sc

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Optical Coherence Tomography - Right - 20/15 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/15 -2 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/15 sc

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Infrared Fundus Photograph - Left - 20/15 -2 sc

Exemplar

Visit at age: 16 years (Visit 2)

Fundus Photography - Right - 20/15 -2 sc

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Fundus Montage - Right - 20/15 -2 sc

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Visit at age: 17 years

Fundus Photography - Right - 20/15 sc

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Fundus Photography - Left - 20/15 -1 sc

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Optical Coherence Tomography - Right - 20/15 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/15 -1 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/15 sc

Exemplar

Infrared Fundus Photograph - Left - 20/15 -1 sc

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Visit at age: 18 years

Optical Coherence Tomography - Right - 20/15 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/15 -2 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/15 sc

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Infrared Fundus Photograph - Left - 20/15 -2 sc

Exemplar

Visit at age: 19 years

Fundus Photography - Right - 20/12.5 sc

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Fundus Photography - Left - 20/16 sc

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Fundus Montage - Right - 20/12.5 sc

Exemplar

Optical Coherence Tomography - Right - 20/12.5 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/16 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/12.5 sc

Exemplar

Infrared Fundus Photograph - Left - 20/16 sc

Exemplar

Visit at age: 20 years

Optical Coherence Tomography - Right - 20/16 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 -1 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/16 sc

Exemplar

Infrared Fundus Photograph - Left - 20/20 -1 sc

Exemplar

Visit at age: 21 years

Optical Coherence Tomography - Right - 20/15 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/15 -2 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/15 sc

Exemplar

Infrared Fundus Photograph - Left - 20/15 -2 sc

Exemplar

Visit at age: 22 years

Fundus Photography - Right - 20/15 sc

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Fundus Montage - Right - 20/15 sc

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Visit at age: 23 years

Fundus Photography - Right - 20/15 sc

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Fundus Photography - Left - 20/15 -1 sc

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Fluorescein Angiography - Right - 20/15 sc

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Fluorescein Angiography - Left - 20/15 -1 sc

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Visit at age: 23 years (Visit 2)

Fundus Photography - Right - 20/15 -2 sc

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Fundus Photography - Left - 20/15 -1 sc

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Visit at age: 24 years

Fundus Photography - Right - 20/15 -1 sc

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Fundus Photography - Left - 20/20 -1 sc

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Visit at age: 25 years

Fundus Photography - Right - 20/15 sc

Exemplar

Fundus Photography - Left - 20/15 -1 sc

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Fluorescein Angiography - Right - 20/15 sc

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Fluorescein Angiography - Left - 20/15 -1 sc

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Visit at age: 26 years

Fundus Photography - Right - 20/20 sc

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Fundus Photography - Left - 20/20 sc

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
von Hippel Lindau VHL Tyr98His TAC>CAC   AD
Disease:
von Hippel Lindau
Gene:
VHL
Allele 1:
Tyr98His TAC>CAC
Allele 2:
 
Inheritance:
AD
Cite this case