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SR2055

AR Stargardt Disease (IIA)

Female

Female

SR2055

AR Stargardt Disease (IIA)

Female

Female

Visit at age: 37 years

Fundus Photography - Right - 20/25 -1

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Fundus Montage - Right - 20/25 -1

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Fundus Montage - Left - 20/25 -1

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Goldmann Visual Field - Right - 20/25 -1

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Goldmann Visual Field - Left - 20/25 -1

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Optical Coherence Tomography - Right - 20/25 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 -1

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Infrared Fundus Photograph - Left - 20/25 -1

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Visit at age: 38 years

Goldmann Visual Field - Right - 20/25 -1

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Goldmann Visual Field - Left - 20/25

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Optical Coherence Tomography - Right - 20/25 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 -1

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Infrared Fundus Photograph - Left - 20/25

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Visit at age: 41 years

Goldmann Visual Field - Right - 20/25 -1

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Goldmann Visual Field - Left - 20/25 -2

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Optical Coherence Tomography - Right - 20/25 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 -2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 -1

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Infrared Fundus Photograph - Left - 20/25 -2

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Visit at age: 47 years

Goldmann Visual Field - Right - 20/200 +2

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Goldmann Visual Field - Left - 20/50 -1

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Optical Coherence Tomography - Right - 20/200 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200 +2

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Infrared Fundus Photograph - Left - 20/50 -1

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Visit at age: 49 years

Fundus Photography - Right - 20/200 +1

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Fundus Photography - Left - 20/100 +2

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Goldmann Visual Field - Right - 20/200 +1

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Goldmann Visual Field - Left - 20/100 +2

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Optical Coherence Tomography - Right - 20/200 +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 - 20/200 +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 Val256Val GTG>GTT Not Identified AR
Gene:
Allele 1:
Val256Val GTG>GTT
Allele 2:
Not Identified
Inheritance:
AR
Cite this case