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StoneRounds Disease Atlas SR1777

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SR1777

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Enhanced S-Cone Syndrome (IA2fiv)

Male

Male

SR1777

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Enhanced S-Cone Syndrome (IA2fiv)

Male

Male

Visit at age: 45 years

Fundus Photography - Right - 20/25 -1

Exemplar

Fundus Photography - Left - 20/20 -1

Exemplar

Fundus Montage - Right - 20/25 -1

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Fundus Montage - Left - 20/20 -1

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Goldmann Visual Field - Right - 20/25 -1

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Goldmann Visual Field - Left - 20/20 -1

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Optical Coherence Tomography - Right - 20/25 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 -1

Exemplar

Infrared Fundus Photograph - Left - 20/20 -1

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Blue Autofluorescence - Right - 20/25 -1

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Blue Autofluorescence - Left - 20/20 -1

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Visit at age: 48 years

Fundus Photography - Right - 20/25

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Fundus Photography - Left - 20/25

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Goldmann Visual Field - Right - 20/25

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Goldmann Visual Field - Left - 20/25

Exemplar

Optical Coherence Tomography - Right - 20/25

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25

Exemplar

Infrared Fundus Photograph - Left - 20/25

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Enhanced S-Cone Syndrome NR2E3 IVS1-2 A>C Arg311Gln CGG>CAG AR
Disease:
Enhanced S-Cone Syndrome
Gene:
NR2E3
Allele 1:
IVS1-2 A>C
Allele 2:
Arg311Gln CGG>CAG
Inheritance:
AR
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