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SR31

von Hippel Lindau (IIID1)

Male

Male

SR31

von Hippel Lindau (IIID1)

Male

Male

Visit at age: 10 years

Fundus Photography - Right - 20/20

Exemplar

Fundus Photography - Left - 20/20

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Visit at age: 11 years

Fundus Photography - Left - 20/25 -3

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Visit at age: 11 years (Visit 2)

Fundus Photography - Left - 20/25

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Visit at age: 11 years (Visit 3)

Fundus Photography - Right - 20/20 -3

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Visit at age: 16 years

Fundus Photography - Right - 20/100

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Fundus Photography - Left - 20/20

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Fundus Montage - Right - 20/100

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Fundus Montage - Left - 20/20

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Goldmann Visual Field - Right - 20/100

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Goldmann Visual Field - Left - 20/20

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Visit at age: 16 years (Visit 2)

Fundus Photography - Right - 20/100 +1

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Fundus Photography - Left - 20/25

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Fundus Montage - Right - 20/100 +1

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Fundus Montage - Left - 20/25

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Visit at age: 16 years (Visit 3)

Fundus Photography - Right - 20/250

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Fundus Photography - Left - 20/20

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Visit at age: 16 years (Visit 4)

Fundus Photography - Right - 20/200

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Fundus Photography - Left - 20/15

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Fundus Montage - Right - 20/200

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Fundus Montage - Left - 20/15

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Visit at age: 16 years (Visit 5)

Fundus Photography - Right - 20/125

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Visit at age: 16 years (Visit 6)

Fundus Photography - Right - 20/250

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Fundus Photography - Left - 20/25

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Fundus Montage - Right - 20/250

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Visit at age: 19 years

Fundus Photography - Left - 20/15 -1

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Fundus Montage - Left - 20/15 -1

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Visit at age: 20 years

Fundus Photography - Left - 20/15 -1

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Visit at age: 21 years

Fundus Photography - Left - 20/20 +2

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Fundus Montage - Left - 20/20 +2

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Visit at age: 21 years (Visit 2)

Fundus Photography - Left - 20/15

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Fundus Montage - Left - 20/15

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Visit at age: 22 years

Fundus Photography - Left - 20/20

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Fundus Montage - Left - 20/20

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Visit at age: 22 years (Visit 2)

Fundus Photography - Left - 20/15

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Fundus Montage - Left - 20/15

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Visit at age: 23 years

Fundus Photography - Left - 20/15 -2

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Fundus Montage - Left - 20/15 -2

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Visit at age: 23 years (Visit 2)

Fundus Photography - Left - 20/20

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Visit at age: 23 years (Visit 3)

Fundus Photography - Left - 20/15

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Fundus Montage - Left - 20/15

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Visit at age: 23 years (Visit 4)

Fundus Photography - Left - 20/20

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Fundus Montage - Left - 20/20

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Visit at age: 23 years (Visit 5)

Fundus Photography - Left - 20/15

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Fundus Montage - Left - 20/15

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Visit at age: 24 years

Fundus Photography - Left - 20/25 -1

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Fundus Montage - Left - 20/25 -1

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Visit at age: 24 years (Visit 2)

Fundus Photography - Left - 20/20

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Fundus Montage - Left - 20/20

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Optical Coherence Tomography - Left - 20/20

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Left - 20/20

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Visit at age: 24 years (Visit 3)

Fundus Photography - Left - 20/15

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Fundus Montage - Left - 20/15

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Visit at age: 24 years (Visit 4)

Fundus Photography - Left - 20/20 +2

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Fundus Montage - Left - 20/20 +2

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Visit at age: 25 years

Fundus Photography - Left - 20/20

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Fundus Montage - Left - 20/20

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Visit at age: 26 years

Fundus Photography - Left - 20/15

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Fundus Montage - Left - 20/15

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Visit at age: 26 years (Visit 2)

Fundus Photography - Left - 20/15 -2

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Fundus Montage - Left - 20/15 -2

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Visit at age: 26 years (Visit 3)

Fundus Photography - Left - 20/15

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Fundus Montage - Left - 20/15

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Visit at age: 27 years

Fundus Photography - Left - 20/20 +2

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Fundus Montage - Left - 20/20 +2

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Visit at age: 27 years (Visit 2)

Fundus Photography - Left - 20/20

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Fundus Montage - Left - 20/20

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Visit at age: 28 years

Fundus Photography - Left - 20/20

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Fundus Montage - Left - 20/20

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Visit at age: 28 years (Visit 2)

Fundus Photography - Left - 20/15

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Fundus Montage - Left - 20/15

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Optical Coherence Tomography - Left - 20/15

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Left - 20/15

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Visit at age: 29 years

Fundus Photography - Left - 20/15 -1

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Fundus Montage - Left - 20/15 -1

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Optical Coherence Tomography - Left - 20/15 -1

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Left - 20/15 -1

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Visit at age: 29 years (Visit 2)

Fundus Photography - Left - 20/15 -1

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Fundus Montage - Left - 20/15 -1

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Optical Coherence Tomography - Left - 20/15 -1

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Left - 20/15 -1

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Visit at age: 29 years (Visit 3)

Fundus Photography - Left - 20/15

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Fundus Montage - Left - 20/15

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Visit at age: 30 years

Fundus Photography - Left - 20/15

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Fundus Montage - Left - 20/15

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Fluorescein Angiography - Left - 20/15

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Visit at age: 30 years (Visit 2)

Fundus Photography - Left - 20/15

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Visit at age: 30 years (Visit 3)

Fundus Photography - Left - 20/15

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Fluorescein Angiography - Left - 20/15

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Visit at age: 31 years

Fundus Photography - Left - 20/20

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Fundus Montage - Left - 20/20

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Optical Coherence Tomography - Left - 20/20

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Left - 20/20

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Visit at age: 31 years (Visit 2)

Fundus Photography - Left - 20/20 -1

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Fundus Montage - Left - 20/20 -1

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Optical Coherence Tomography - Left - 20/20 -1

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Left - 20/20 -1

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Visit at age: 32 years

Fundus Photography - Left - 20/20

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Fundus Montage - Left - 20/20

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Optical Coherence Tomography - Left - 20/20

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Left - 20/20

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Visit at age: 33 years

Fundus Photography - Left - 20/20

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Fundus Montage - Left - 20/20

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Optical Coherence Tomography - Left - 20/20

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Left - 20/20

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Visit at age: 33 years (Visit 2)

Fundus Photography - Left - 20/15 -1

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Fundus Montage - Left - 20/15 -1

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Optical Coherence Tomography - Left - 20/15 -1

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Left - 20/15 -1

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Visit at age: 34 years

Fundus Photography - Left - 20/15 sc

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Fundus Montage - Left - 20/15 sc

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Optical Coherence Tomography - Left - 20/15 sc

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Left - 20/15 sc

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Visit at age: 34 years (Visit 2)

Fundus Photography - Left - 20/20

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Fundus Montage - Left - 20/20

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Optical Coherence Tomography - Left - 20/20

Exemplar / OCT Stack

Infrared Fundus Photograph - Left - 20/20

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Visit at age: 35 years

Optical Coherence Tomography - Left - 20/15 -1

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Left - 20/15 -1

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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	Asn78Ser AAT>AGT		AD

Disease:

von Hippel Lindau

Gene:

Allele 1:

Asn78Ser AAT>AGT

Allele 2:

Inheritance:

AD

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