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SR1831

AR Stargardt Disease (IIA)

Female

Female

SR1831

AR Stargardt Disease (IIA)

Female

Female

Visit at age: 42 years

Fundus Photography - Right - 20/200

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Fundus Photography - Left - 20/200

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Fundus Montage - Right - 20/200

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Fundus Montage - Left - 20/200

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Goldmann Visual Field - Right - 20/200

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Goldmann Visual Field - Left - 20/200

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Optical Coherence Tomography - Right - 20/200

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/200

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200

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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 Val256Val GTG>GTT Gly1961Glu GGA>GAA AR
Gene:
Allele 1:
Val256Val GTG>GTT
Allele 2:
Gly1961Glu GGA>GAA
Inheritance:
AR
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