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SR437

AR Stargardt Disease (IIA)

Male

Male

SR437

AR Stargardt Disease (IIA)

Male

Male

Visit at age: 32 years

Fundus Photography - Right - 20/200 -2

Exemplar

Fundus Photography - Left - 20/200

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Fundus Montage - Right - 20/200 -2

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Fundus Montage - Left - 20/200

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Goldmann Visual Field - Right - 20/200 -2

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Goldmann Visual Field - Left - 20/200

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Optical Coherence Tomography - Right - 20/200 -2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/200

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200 -2

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Infrared Fundus Photograph - Left - 20/200

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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 Arg681Stop CGA>TGA Arg1860Trp CGG>TGG AR
Gene:
Allele 1:
Arg681Stop CGA>TGA
Allele 2:
Arg1860Trp CGG>TGG
Inheritance:
AR
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