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SR493

AR Stargardt Disease (IIA)

Male

Male

SR493

AR Stargardt Disease (IIA)

Male

Male

Visit at age: 59 years

Fundus Photography - Right - 20/25

Exemplar

Fundus Photography - Left - 20/25 -2

Exemplar

Fundus Montage - Right - 20/25

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Fundus Montage - Left - 20/25 -2

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Goldmann Visual Field - Right - 20/25

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Goldmann Visual Field - Left - 20/25 -2

Exemplar

Optical Coherence Tomography - Right - 20/25

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 -2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25

Exemplar

Infrared Fundus Photograph - Left - 20/25 -2

Exemplar

Blue Autofluorescence - Right - 20/25

Exemplar

Blue Autofluorescence - Left - 20/25 -2

Exemplar

Visit at age: 60 years

Goldmann Visual Field - Right - 20/25

Exemplar

Goldmann Visual Field - Left - 20/32 -2

Exemplar

Optical Coherence Tomography - Right - 20/25

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25

Exemplar

Infrared Fundus Photograph - Left - 20/32 -2

Exemplar

Blue Autofluorescence - Right - 20/25

Exemplar

Blue Autofluorescence - Left - 20/32 -2

Exemplar

Visit at age: 61 years

Goldmann Visual Field - Right - 20/40

Exemplar

Goldmann Visual Field - Left - 20/50

Exemplar

Optical Coherence Tomography - Right - 20/40

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40

Exemplar

Infrared Fundus Photograph - Left - 20/50

Exemplar

Visit at age: 62 years

Goldmann Visual Field - Right - 20/40 -1

Exemplar

Goldmann Visual Field - Left - 20/63 -1

Exemplar

Optical Coherence Tomography - Right - 20/40 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/63 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 -1

Exemplar

Infrared Fundus Photograph - Left - 20/63 -1

Exemplar

Blue Autofluorescence - Right - 20/40 -1

Exemplar

Blue Autofluorescence - Left - 20/63 -1

Exemplar

Visit at age: 63 years

Goldmann Visual Field - Right - 20/50 -1

Exemplar

Goldmann Visual Field - Left - 20/160 -2

Exemplar

Optical Coherence Tomography - Right - 20/50 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/160 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50 -1

Exemplar

Infrared Fundus Photograph - Left - 20/160 -2

Exemplar

Blue Autofluorescence - Right - 20/50 -1

Exemplar

Blue Autofluorescence - Left - 20/160 -2

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Stargardt Disease ABCA4 Leu2027Phe CTC>TTC IVS30+1321 A>G AR
Gene:
Allele 1:
Leu2027Phe CTC>TTC
Allele 2:
IVS30+1321 A>G
Inheritance:
AR
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