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StoneRounds Disease Atlas SR2290

SR2290

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Sorsby Fundus Dystrophy (IIH)

Male

Male

SR2290

Ladder View Download View

Sorsby Fundus Dystrophy (IIH)

Male

Male

Visit at age: 26 years

Goldmann Visual Field - Right - 20/15 -2

Exemplar

Visit at age: 42 years

Fundus Photography - Right - 20/750

Exemplar

Fundus Photography - Left - 20/200

Exemplar

Visit at age: 65 years

Goldmann Visual Field - Right - Count Fingers 3'

Exemplar

Goldmann Visual Field - Left - Count Fingers 3'

Exemplar

Visit at age: 65 years (Visit 2)

Fundus Photography - Left - Count Fingers 2'

Exemplar

Optical Coherence Tomography - Right - Count Fingers 2'

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Count Fingers 2'

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Count Fingers 2'

Exemplar

Infrared Fundus Photograph - Left - Count Fingers 2'

Exemplar

B-Scan Ultrasonography - Right - Count Fingers 2'

Exemplar

Visit at age: 65 years (Visit 3)

Fundus Photography - Right - Count Fingers 6'

Exemplar

Fundus Photography - Left - Count Fingers 4'

Exemplar

Fundus Montage - Left - Count Fingers 4'

Exemplar

Optical Coherence Tomography - Right - Count Fingers 6'

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Count Fingers 4'

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Count Fingers 6'

Exemplar

Infrared Fundus Photograph - Left - Count Fingers 4'

Exemplar

Visit at age: 66 years

Goldmann Visual Field - Right - 20/250 sc

Exemplar

Goldmann Visual Field - Left - 20/250 sc

Exemplar

Visit at age: 66 years (Visit 2)

Optical Coherence Tomography - Right - 20/200 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/400 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200 sc

Exemplar

Infrared Fundus Photograph - Left - 20/400 sc

Exemplar

Visit at age: 67 years

Goldmann Visual Field - Right - Count Fingers 3'

Exemplar

Goldmann Visual Field - Left - 10/160 -2 sc

Exemplar

Visit at age: 67 years (Visit 2)

Optical Coherence Tomography - Right - 20/300 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/200 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/300 sc

Exemplar

Infrared Fundus Photograph - Left - 20/200 sc

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Sorsby Fundus Dystrophy TIMP3 Tyr191Cys TAC>TGC   AD
Disease:
Sorsby Fundus Dystrophy
Gene:
TIMP3
Allele 1:
Tyr191Cys TAC>TGC
Allele 2:
 
Inheritance:
AD
Cite this case