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SR502

AR Stargardt Disease (IIA)

Male

Male

SR502

AR Stargardt Disease (IIA)

Male

Male

Visit at age: 13 years

Fundus Photography - Right - 20/80 -1

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Fundus Montage - Left - 20/80

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Goldmann Visual Field - Right - 20/80 -1

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Goldmann Visual Field - Left - 20/80

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Optical Coherence Tomography - Right - 20/80 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/80

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OCT Stack

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Infrared Fundus Photograph - Left - 20/80

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Visit at age: 13 years (Visit 2)

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Goldmann Visual Field - Left - 20/80 -1

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Optical Coherence Tomography - Right - 20/100 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/80 -1

Exemplar / OCT Stack
OCT Stack

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Visit at age: 14 years

Goldmann Visual Field - Right - 20/80

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Goldmann Visual Field - Left - 20/80

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Optical Coherence Tomography - Right - 20/80

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/80

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/80

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Infrared Fundus Photograph - Left - 20/80

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Visit at age: 15 years

Goldmann Visual Field - Right - 20/80 -1

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Goldmann Visual Field - Left - 20/80

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Optical Coherence Tomography - Right - 20/80 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/80

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/80 -1

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Infrared Fundus Photograph - Left - 20/80

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Blue Autofluorescence - Right - 20/80 -1

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Blue Autofluorescence - Left - 20/80

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Visit at age: 16 years

Goldmann Visual Field - Right - 20/100 +1

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Goldmann Visual Field - Left - 20/80

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Optical Coherence Tomography - Right - 20/100 +1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/80

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/100 +1

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Infrared Fundus Photograph - Left - 20/80

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Blue Autofluorescence - Right - 20/100 +1

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Blue Autofluorescence - Left - 20/80

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Visit at age: 17 years

Goldmann Visual Field - Right - 20/80 -1

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Goldmann Visual Field - Left - 20/80 -2

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Optical Coherence Tomography - Right - 20/80 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/80 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/80 -1

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Infrared Fundus Photograph - Left - 20/80 -2

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Blue Autofluorescence - Right - 20/80 -1

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Blue Autofluorescence - Left - 20/80 -2

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Visit at age: 18 years

Goldmann Visual Field - Right - 20/100 +1

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Goldmann Visual Field - Left - 20/100 +1

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Optical Coherence Tomography - Right - 20/100 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/100 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/100 +1

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Infrared Fundus Photograph - Left - 20/100 +1

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Blue Autofluorescence - Right - 20/100 +1

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Blue Autofluorescence - Left - 20/100 +1

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Visit at age: 20 years

Goldmann Visual Field - Right - 20/100 -1

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Goldmann Visual Field - Left - 20/100 -2

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Optical Coherence Tomography - Right - 20/100 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/100 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/100 -1

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Infrared Fundus Photograph - Left - 20/100 -2

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Stargardt Disease ABCA4 IVS38-10T>C Arg1108His CGC>CAC AR
Gene:
Allele 1:
IVS38-10T>C
Allele 2:
Arg1108His CGC>CAC
Inheritance:
AR
Cite this case