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SR589

AR Stargardt Disease (IIA)

Male

Male

SR589

AR Stargardt Disease (IIA)

Male

Male

Visit at age: 66 years

Fundus Photography - Right - 20/25

Exemplar

Fundus Photography - Left - 20/25

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Goldmann Visual Field - Right - 20/25

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Goldmann Visual Field - Left - 20/25

Exemplar

Visit at age: 70 years

Goldmann Visual Field - Right - 20/32 -1

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Goldmann Visual Field - Left - 20/25 -1

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Visit at age: 72 years

Goldmann Visual Field - Right - 20/200

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Goldmann Visual Field - Left - 20/200

Exemplar

Visit at age: 74 years

Goldmann Visual Field - Right - 20/160 +2 sc

Exemplar

Goldmann Visual Field - Left - 20/160 sc

Exemplar

Visit at age: 75 years

Fundus Photography - Right - 20/160 +2 sc

Exemplar

Fundus Photography - Left - 20/160 sc

Exemplar

Goldmann Visual Field - Right - 20/160 +2 sc

Exemplar

Optical Coherence Tomography - Right - 20/160 +2 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/160 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/160 +2 sc

Exemplar

Infrared Fundus Photograph - Left - 20/160 sc

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Visit at age: 76 years

Fundus Photography - Right - 20/160 -2 sc

Exemplar

Fundus Photography - Left - 20/160 -2 sc

Exemplar

Goldmann Visual Field - Right - 20/160 -2 sc

Exemplar

Goldmann Visual Field - Left - 20/160 -2 sc

Exemplar

Visit at age: 77 years

Goldmann Visual Field - Right - 20/160 sc

Exemplar

Goldmann Visual Field - Left - 20/160 sc

Exemplar

Optical Coherence Tomography - Right - 20/160 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/160 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/160 sc

Exemplar

Infrared Fundus Photograph - Left - 20/160 sc

Exemplar

Visit at age: 79 years

Goldmann Visual Field - Right - 20/250 sc

Exemplar

Goldmann Visual Field - Left - 20/250 sc

Exemplar

Optical Coherence Tomography - Right - 20/250 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/250 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/250 sc

Exemplar

Infrared Fundus Photograph - Left - 20/250 sc

Exemplar

Visit at age: 80 years

Optical Coherence Tomography - Right - 20/200 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/200 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200 sc

Exemplar

Infrared Fundus Photograph - Left - 20/200 sc

Exemplar

Visit at age: 82 years

Goldmann Visual Field - Right - 10/200 sc

Exemplar

Goldmann Visual Field - Left - 10/200 sc

Exemplar

Optical Coherence Tomography - Right - 10/200 sc

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 10/200 sc

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 10/200 sc

Exemplar

Infrared Fundus Photograph - Left - 10/200 sc

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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 Gly607Arg GGG>AGG IVS30+1321 A>G AR
Gene:
Allele 1:
Gly607Arg GGG>AGG
Allele 2:
IVS30+1321 A>G
Inheritance:
AR
Cite this case