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StoneRounds Disease Atlas SR2273

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SR2273

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Sorsby Fundus Dystrophy (IIH)

Female

Female

SR2273

Ladder View Download View

Sorsby Fundus Dystrophy (IIH)

Female

Female

Visit at age: 52 years

Fundus Photography - Right - 20/63

Exemplar

Fundus Photography - Left - 5/400

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Fundus Montage - Right - 20/63

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Fundus Montage - Left - 5/400

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Goldmann Visual Field - Right - 20/63

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Goldmann Visual Field - Left - 5/400

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Optical Coherence Tomography - Right - 20/63

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 5/400

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/63

Exemplar

Infrared Fundus Photograph - Left - 5/400

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Visit at age: 53 years

Optical Coherence Tomography - Right - 10/300

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 10/200

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 10/300

Exemplar

Infrared Fundus Photograph - Left - 10/200

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Blue Autofluorescence - Right - 10/300

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Blue Autofluorescence - Left - 10/200

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Visit at age: 55 years

Goldmann Visual Field - Right - 10/225

Exemplar

Goldmann Visual Field - Left - 10/225

Exemplar

Optical Coherence Tomography - Right - 10/225

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 10/225

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 10/225

Exemplar

Infrared Fundus Photograph - Left - 10/225

Exemplar

Visit at age: 58 years

Optical Coherence Tomography - Right - 3/100

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 3/80

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 3/100

Exemplar

Infrared Fundus Photograph - Left - 3/80

Exemplar

Blue Autofluorescence - Right - 3/100

Exemplar

Blue Autofluorescence - Left - 3/80

Exemplar

Visit at age: 59 years

Optical Coherence Tomography - Right - 5/250

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 5/120

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 5/250

Exemplar

Infrared Fundus Photograph - Left - 5/120

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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 Ser38Cys TCC>TGC   AD
Disease:
Sorsby Fundus Dystrophy
Gene:
TIMP3
Allele 1:
Ser38Cys TCC>TGC
Allele 2:
 
Inheritance:
AD
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