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SR3052

AR Stargardt Disease (IIA)

Male

Male

SR3052

AR Stargardt Disease (IIA)

Male

Male

Visit at age: 56 years

Fundus Photography - Right - 20/150

Exemplar

Fundus Photography - Left - 20/70

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Fundus Montage - Right - 20/150

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Fundus Montage - Left - 20/70

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Goldmann Visual Field - Right - 20/150

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Goldmann Visual Field - Left - 20/70

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Optical Coherence Tomography - Right - 20/150

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/70

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/150

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Infrared Fundus Photograph - Left - 20/70

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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 Asn965Ser AAT>AGT Glu2131Lys GAA>AAA AR
Gene:
Allele 1:
Asn965Ser AAT>AGT
Allele 2:
Glu2131Lys GAA>AAA
Inheritance:
AR
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