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StoneRounds Disease Atlas SR558

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SR558

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AR Stargardt Disease (IIA)

Female

Female

SR558

Ladder View Download View

AR Stargardt Disease (IIA)

Female

Female

Visit at age: 43 years

Fundus Photography - Right - 20/20

Exemplar

Fundus Photography - Left - 20/20

Exemplar

Goldmann Visual Field - Right - 20/20

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Goldmann Visual Field - Left - 20/20

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Fluorescein Angiography - Right - 20/20

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Fluorescein Angiography - Left - 20/20

Exemplar

Visit at age: 46 years

Goldmann Visual Field - Right - 20/25 -2

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Goldmann Visual Field - Left - 20/30 +1

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Visit at age: 49 years

Fundus Photography - Right - 20/25 -1

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Fundus Photography - Left - 20/30 +2

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Goldmann Visual Field - Right - 20/25 -1

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Goldmann Visual Field - Left - 20/30 +2

Exemplar

Visit at age: 51 years

Fundus Photography - Right - 20/40 -2

Exemplar

Fundus Photography - Left - 20/30

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Goldmann Visual Field - Right - 20/40 -2

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Goldmann Visual Field - Left - 20/30

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Visit at age: 53 years

Goldmann Visual Field - Right - 20/40

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Goldmann Visual Field - Left - 10/200

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Visit at age: 54 years

Fundus Photography - Right - 20/50

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Fundus Photography - Left - 10/200

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Visit at age: 60 years

Goldmann Visual Field - Right - 20/250 sc

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Goldmann Visual Field - Left - 20/250 sc

Exemplar

Optical Coherence Tomography - Right - 20/250 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/250 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/250 sc

Exemplar

Infrared Fundus Photograph - Left - 20/250 sc

Exemplar

Visit at age: 61 years

Optical Coherence Tomography - Right - 10/200

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 10/200 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 10/200

Exemplar

Infrared Fundus Photograph - Left - 10/200 sc

Exemplar

Visit at age: 63 years

Goldmann Visual Field - Right - 5/200 sc

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Goldmann Visual Field - Left - <1/700 sc

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Optical Coherence Tomography - Right - 5/200 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - <1/700 sc

Exemplar

Infrared Fundus Photograph - Right - 5/200 sc

Exemplar

Infrared Fundus Photograph - Left - <1/700 sc

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Visit at age: 66 years

Fundus Photography - Right - 10/200 sc

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Fundus Photography - Left - 10/125 -1 sc

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Goldmann Visual Field - Right - 10/200 sc

Exemplar

Goldmann Visual Field - Left - 10/125 -1 sc

Exemplar

Optical Coherence Tomography - Right - 10/200 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 10/125 -1 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 10/200 sc

Exemplar

Infrared Fundus Photograph - Left - 10/125 -1 sc

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Blue Autofluorescence - Right - 10/200 sc

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Blue Autofluorescence - Left - 10/125 -1 sc

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Visit at age: 67 years

Goldmann Visual Field - Right - 10/200 sc

Exemplar

Goldmann Visual Field - Left - 10/125 sc

Exemplar

Optical Coherence Tomography - Right - 10/200 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 10/125 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 10/200 sc

Exemplar

Infrared Fundus Photograph - Left - 10/125 sc

Exemplar

Blue Autofluorescence - Right - 10/200 sc

Exemplar

Blue Autofluorescence - Left - 10/125 sc

Exemplar

Visit at age: 68 years

Goldmann Visual Field - Right - 10/200 sc

Exemplar

Goldmann Visual Field - Left - 10/160 sc

Exemplar

Optical Coherence Tomography - Right - 10/200 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 10/160 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 10/200 sc

Exemplar

Infrared Fundus Photograph - Left - 10/160 sc

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Stargardt Disease ABCA4 Asp645Asn GAT>AAT Trp663Stop TGG>TAG AR
Disease:
AR Stargardt Disease
Gene:
ABCA4
Allele 1:
Asp645Asn GAT>AAT
Allele 2:
Trp663Stop TGG>TAG
Inheritance:
AR
Cite this case