SR2146

AD Stargardt Disease (IIF)

Male

Male

SR2146

AD Stargardt Disease (IIF)

Male

Male

Visit at age: 57 years

Fundus Photography - Right - 20/125

Exemplar

Fundus Photography - Left - 20/125

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Fundus Montage - Right - 20/125

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Fundus Montage - Left - 20/125

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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

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Infrared Fundus Photograph - Left - 20/125

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Blue Autofluorescence - Right - 20/125

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Blue Autofluorescence - 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
AD Stargardt Disease ELOVL4 Leu263 del5tttCTTAA   AD
Gene:
Allele 1:
Leu263 del5tttCTTAA
Allele 2:
 
Inheritance:
AD
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