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StoneRounds Disease Atlas SR290

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SR290

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Macular Disease (II)

Male

Male

SR290

Ladder View Download View

Macular Disease (II)

Male

Male

Visit at age: 30 years

Fundus Photography - Right - 20/25 +1

Exemplar

Fundus Photography - Left - 20/20 -1

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Fundus Montage - Right - 20/25 +1

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Fundus Montage - Left - 20/20 -1

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Goldmann Visual Field - Right - 20/25 +1

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Goldmann Visual Field - Left - 20/20 -1

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Optical Coherence Tomography - Right - 20/25 +1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 +1

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Infrared Fundus Photograph - Left - 20/20 -1

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Visit at age: 32 years

Goldmann Visual Field - Right - 20/25

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Goldmann Visual Field - Left - 20/25

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Optical Coherence Tomography - Right - 20/25

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25

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Infrared Fundus Photograph - Left - 20/25

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Visit at age: 34 years

Fundus Photography - Right - 20/20

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Fundus Photography - Left - 20/20

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Goldmann Visual Field - Right - 20/20

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Goldmann Visual Field - Left - 20/20

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Optical Coherence Tomography - Right - 20/20

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20

Exemplar

Infrared Fundus Photograph - Left - 20/20

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Visit at age: 35 years

Goldmann Visual Field - Right - 20/25 +1

Exemplar

Goldmann Visual Field - Left - 20/20 -1

Exemplar

Optical Coherence Tomography - Right - 20/25 +1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 +1

Exemplar

Infrared Fundus Photograph - Left - 20/20 -1

Exemplar

Visit at age: 37 years

Goldmann Visual Field - Right - 20/20 +1

Exemplar

Goldmann Visual Field - Left - 20/20

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Optical Coherence Tomography - Right - 20/20 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 +1

Exemplar

Infrared Fundus Photograph - Left - 20/20

Exemplar

Visit at age: 39 years

Goldmann Visual Field - Right - 20/25 +1

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Goldmann Visual Field - Left - 20/50 -2

Exemplar

Optical Coherence Tomography - Right - 20/25 +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 - 20/25 +1

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Infrared Fundus Photograph - Left - 20/50 -2

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Visit at age: 40 years

Goldmann Visual Field - Right - 20/32 -1

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Goldmann Visual Field - Left - 20/160 +2

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Optical Coherence Tomography - Right - 20/32 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/160 +2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/32 -1

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Infrared Fundus Photograph - Left - 20/160 +2

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Blue Autofluorescence - Right - 20/32 -1

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Blue Autofluorescence - Left - 20/160 +2

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Visit at age: 42 years

Goldmann Visual Field - Right - 20/50

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Goldmann Visual Field - Left - 20/300 +1

Exemplar

Optical Coherence Tomography - Right - 20/50

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/300 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50

Exemplar

Infrared Fundus Photograph - Left - 20/300 +1

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Macular Disease WDR19 His344Arg CAT>CGT Ser485Ile AGT>ATT AR
Disease:
Macular Disease
Gene:
WDR19
Allele 1:
His344Arg CAT>CGT
Allele 2:
Ser485Ile AGT>ATT
Inheritance:
AR
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