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SR59

AD Stargardt Disease (IIF)

Female

Female

SR59

AD Stargardt Disease (IIF)

Female

Female

Visit at age: 14 years

Fundus Photography - Right - 20/25 +2

Exemplar

Fundus Photography - Left - 20/30 -2

Exemplar

Visit at age: 16 years

Fundus Photography - Right - 20/70 -1

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Fundus Photography - Left - 20/70 -1

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Visit at age: 21 years

Fundus Photography - Right - 20/200

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Fundus Photography - Left - 20/200

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Visit at age: 31 years

Fundus Photography - Right - 20/100

Exemplar

Fundus Photography - Left - 20/100 +1

Exemplar

Visit at age: 43 years

Fundus Photography - Right - 20/200

Exemplar

Fundus Photography - Left - 20/200

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Optical Coherence Tomography - Right - 20/200

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/200

Exemplar / 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
AD Stargardt Disease ELOVL4 Leu263 del5tttCTTAA   AD
Gene:
Allele 1:
Leu263 del5tttCTTAA
Allele 2:
 
Inheritance:
AD
Cite this case