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StoneRounds Disease Atlas SR879

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SR879

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Occult Macular Dystrophy (IIE)

Male

Male

SR879

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Occult Macular Dystrophy (IIE)

Male

Male

Visit at age: 36 years

Fundus Photography - Right - 20/63 +2 sc

Exemplar

Fundus Photography - Left - 20/50 sc

Exemplar

Fundus Montage - Right - 20/63 +2 sc

Exemplar

Fundus Montage - Left - 20/50 sc

Exemplar

Goldmann Visual Field - Right - 20/63 +2 sc

Exemplar

Goldmann Visual Field - Left - 20/50 sc

Exemplar

Optical Coherence Tomography - Right - 20/63 +2 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/63 +2 sc

Exemplar

Infrared Fundus Photograph - Left - 20/50 sc

Exemplar

Visit at age: 37 years

Goldmann Visual Field - Right - 20/50 +2 sc

Exemplar

Goldmann Visual Field - Left - 20/80 +1 sc

Exemplar

Visit at age: 37 years (Visit 2)

Optical Coherence Tomography - Right - 20/30 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 +1 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/30 sc

Exemplar

Infrared Fundus Photograph - Left - 20/50 +1 sc

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Occult Macular Dystrophy RP1L1 Arg45Trp CGG>TGG   AD
Disease:
Occult Macular Dystrophy
Gene:
RP1L1
Allele 1:
Arg45Trp CGG>TGG
Allele 2:
 
Inheritance:
AD
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