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StoneRounds Disease Atlas SR67

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SR67

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Enhanced S-Cone Syndrome (IA2fiv)

Female

Female

SR67

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Enhanced S-Cone Syndrome (IA2fiv)

Female

Female

Visit at age: 7 years

Fundus Photography - Right - 20/40 -2

Exemplar

Fundus Photography - Left - 20/40 -2

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Visit at age: 7 years (Visit 2)

Fundus Photography - Right - 20/30 +2

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Fundus Photography - Left - 20/50

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Visit at age: 13 years

Fundus Photography - Right - 20/30 -2

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Fundus Photography - Left - 20/50 -2

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Fundus Montage - Right - 20/30 -2

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Fundus Montage - Left - 20/50 -2

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Goldmann Visual Field - Right - 20/30 -2

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Goldmann Visual Field - Left - 20/50 -2

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Visit at age: 18 years

Fundus Photography - Right - 20/40 +2

Exemplar

Fundus Photography - Left - 20/50 -1

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Fundus Montage - Right - 20/40 +2

Exemplar

Fundus Montage - Left - 20/50 -1

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Goldmann Visual Field - Right - 20/40 +2

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Goldmann Visual Field - Left - 20/50 -1

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Optical Coherence Tomography - Right - 20/40 +2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 +2

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Infrared Fundus Photograph - Left - 20/50 -1

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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 Arg76Trp CGG>TGG AR
Disease:
Enhanced S-Cone Syndrome
Gene:
NR2E3
Allele 1:
IVS1-2 A>C
Allele 2:
Arg76Trp CGG>TGG
Inheritance:
AR
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