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SR840

AR Stargardt Disease (IIA)

Female

Female

SR840

AR Stargardt Disease (IIA)

Female

Female

Visit at age: 27 years

Fundus Photography - Right - 20/100 +1

Exemplar

Fundus Photography - Left - 20/100 +1

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Fundus Montage - Right - 20/100 +1

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Fundus Montage - Left - 20/100 +1

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Goldmann Visual Field - Right - 20/100 +1

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Goldmann Visual Field - Left - 20/100 +1

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Optical Coherence Tomography - Right - 20/100 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/100 +1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/100 +1

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Infrared Fundus Photograph - Left - 20/100 +1

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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 Asn1442Lys AAC>AAA IVS30+1321 A>G AR
Gene:
Allele 1:
Asn1442Lys AAC>AAA
Allele 2:
IVS30+1321 A>G
Inheritance:
AR
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