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StoneRounds Disease Atlas SR2310

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SR2310

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Malattia Leventinese (IIJ)

Male

Male

SR2310

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Malattia Leventinese (IIJ)

Male

Male

Visit at age: 25 years

Fundus Photography - Right - 20/20 sc

Exemplar

Fundus Photography - Left - 20/15 sc

Exemplar

Optical Coherence Tomography - Right - 20/20 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/15 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 sc

Exemplar

Infrared Fundus Photograph - Left - 20/15 sc

Exemplar

Visit at age: 25 years (Visit 2)

Fundus Photography - Right - 20/20 sc

Exemplar

Fundus Photography - Left - 20/15 sc

Exemplar

Fundus Montage - Right - 20/20 sc

Exemplar

Fundus Montage - Left - 20/15 sc

Exemplar

Optical Coherence Tomography - Right - 20/20 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/15 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 sc

Exemplar

Infrared Fundus Photograph - Left - 20/15 sc

Exemplar

Blue Autofluorescence - Right - 20/20 sc

Exemplar

Blue Autofluorescence - Left - 20/15 sc

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Malattia Leventinese EFEMP1 Arg345Trp CGG>TGG   AD
Disease:
Malattia Leventinese
Gene:
EFEMP1
Allele 1:
Arg345Trp CGG>TGG
Allele 2:
 
Inheritance:
AD
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