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StoneRounds Disease Atlas SR1823

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SR1823

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Pattern Dystrophy (IIC)

Male

Male

SR1823

Ladder View Download View

Pattern Dystrophy (IIC)

Male

Male

Visit at age: 46 years

Fundus Photography - Right - 20/20 -1 sc

Exemplar

Fundus Photography - Left - 20/32 sc

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Fundus Montage - Right - 20/20 -1 sc

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Fundus Montage - Left - 20/32 sc

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Goldmann Visual Field - Right - 20/20 -1 sc

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Goldmann Visual Field - Left - 20/32 sc

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

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

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

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Infrared Fundus Photograph - Left - 20/32 sc

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Blue Autofluorescence - Right - 20/20 -1 sc

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Blue Autofluorescence - Left - 20/32 sc

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Visit at age: 49 years

Fundus Photography - Right - 20/40 +2 sc

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Fundus Photography - Left - 20/40 +1 sc

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Optical Coherence Tomography - Right - 20/40 +2 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 +1 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 +2 sc

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Infrared Fundus Photograph - Left - 20/40 +1 sc

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Fluorescein Angiography - Right - 20/40 +2 sc

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Fluorescein Angiography - Left - 20/40 +1 sc

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Visit at age: 49 years (Visit 2)

Fundus Photography - Right - 20/25 +2

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Fundus Photography - Left - 20/25 -1

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Optical Coherence Tomography - Right - 20/25 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 +2

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Infrared Fundus Photograph - Left - 20/25 -1

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Visit at age: 50 years

Goldmann Visual Field - Right - 20/20 -2

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Goldmann Visual Field - Left - 20/32

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Optical Coherence Tomography - Right - 20/20 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 -2

Exemplar

Infrared Fundus Photograph - Left - 20/32

Exemplar

Visit at age: 51 years

Optical Coherence Tomography - Right - 20/20 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 +1

Exemplar

Infrared Fundus Photograph - Left - 20/20 +2

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Visit at age: 51 years (Visit 2)

Optical Coherence Tomography - Right - 20/25 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 +1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 +2

Exemplar

Infrared Fundus Photograph - Left - 20/25 +1

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Visit at age: 53 years

Optical Coherence Tomography - Right - 20/25 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 +2

Exemplar

Infrared Fundus Photograph - Left - 20/40 +1

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Visit at age: 54 years

Optical Coherence Tomography - Right - 20/40 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 +1 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 sc

Exemplar

Infrared Fundus Photograph - Left - 20/50 +1 sc

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Visit at age: 55 years

Fundus Photography - Right - 20/20 -1

Exemplar

Fundus Photography - Left - 20/50 +2

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Fundus Montage - Right - 20/20 -1

Exemplar

Fundus Montage - Left - 20/50 +2

Exemplar

Optical Coherence Tomography - Right - 20/20 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 -1

Exemplar

Infrared Fundus Photograph - Left - 20/50 +2

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Blue Autofluorescence - Right - 20/20 -1

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Blue Autofluorescence - Left - 20/50 +2

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Pattern Dystrophy PRPH2 Gln239Stop CAG>TAG   AD
Disease:
Pattern Dystrophy
Gene:
PRPH2
Allele 1:
Gln239Stop CAG>TAG
Allele 2:
 
Inheritance:
AD
Cite this case