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SR226

AR Stargardt Disease (IIA)

Female

Female

SR226

AR Stargardt Disease (IIA)

Female

Female

Visit at age: 17 years

Fundus Photography - Right - 20/50 -2

Exemplar

Fundus Photography - Left - 20/25

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Fundus Montage - Right - 20/50 -2

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Fundus Montage - Left - 20/25

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Goldmann Visual Field - Right - 20/50 -2

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Goldmann Visual Field - Left - 20/25

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Visit at age: 19 years

Fundus Photography - Right - 20/160 +1

Exemplar

Fundus Photography - Left - 20/125 -1

Exemplar

Goldmann Visual Field - Right - 20/160 +1

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Goldmann Visual Field - Left - 20/125 -1

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Optical Coherence Tomography - Right - 20/160 +1

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/125 -1

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/160 +1

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Infrared Fundus Photograph - Left - 20/125 -1

Exemplar

Visit at age: 20 years

Goldmann Visual Field - Right - 20/125

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Goldmann Visual Field - Left - 20/125

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Visit at age: 21 years

Goldmann Visual Field - Right - 20/80 +1

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Goldmann Visual Field - Left - 20/80

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Visit at age: 23 years

Fundus Photography - Right - 20/125

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Fundus Photography - Left - 20/125

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Goldmann Visual Field - Right - 20/125

Exemplar

Goldmann Visual Field - Left - 20/125

Exemplar

Optical Coherence Tomography - Right - 20/125

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/125

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/125

Exemplar

Infrared Fundus Photograph - Left - 20/125

Exemplar

Visit at age: 25 years

Goldmann Visual Field - Right - 20/125

Exemplar

Goldmann Visual Field - Left - 20/125

Exemplar

Optical Coherence Tomography - Right - 20/125

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/125

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/125

Exemplar

Infrared Fundus Photograph - Left - 20/125

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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 Gly1961Glu GGA>GAA Val1973 del1ggaG AR
Gene:
Allele 1:
Gly1961Glu GGA>GAA
Allele 2:
Val1973 del1ggaG
Inheritance:
AR
Cite this case