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StoneRounds Disease Atlas SR23

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SR23

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Sorsby Fundus Dystrophy (IIH)

Female

Female

SR23

Ladder View Download View

Sorsby Fundus Dystrophy (IIH)

Female

Female

Visit at age: 43 years

Fundus Photography - Right - 20/70 -1

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Fundus Photography - Left - 20/200

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Fundus Montage - Right - 20/70 -1

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Fundus Montage - Left - 20/200

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Optical Coherence Tomography - Right - 20/70 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/200

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/70 -1

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Infrared Fundus Photograph - Left - 20/200

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Visit at age: 43 years (Visit 2)

Fundus Photography - Right - 20/100

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Fundus Photography - Left - 20/160

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Visit at age: 48 years

Goldmann Visual Field - Right - 20/30

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Goldmann Visual Field - Left - 20/125 -1

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Optical Coherence Tomography - Right - 20/30

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/125 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/30

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Infrared Fundus Photograph - Left - 20/125 -1

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Visit at age: 54 years

Fundus Photography - Right - 20/40 -1

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Fundus Photography - Left - 20/150

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Fundus Montage - Right - 20/40 -1

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Fundus Montage - Left - 20/150

Exemplar

Goldmann Visual Field - Right - 20/40 -1

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Goldmann Visual Field - Left - 20/150

Exemplar

Optical Coherence Tomography - Right - 20/40 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/150

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 -1

Exemplar

Infrared Fundus Photograph - Left - 20/150

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Sorsby Fundus Dystrophy TIMP3 Cys24Arg TGC>CGC   AD
Disease:
Sorsby Fundus Dystrophy
Gene:
TIMP3
Allele 1:
Cys24Arg TGC>CGC
Allele 2:
 
Inheritance:
AD
Cite this case