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StoneRounds Disease Atlas SR185

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SR185

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ECORD (IA2c)

Male

Male

SR185

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ECORD (IA2c)

Male

Male

Visit at age: 9 years

Fundus Photography - Right - 20/100

Exemplar

Fundus Photography - Left - 20/125 -1

Exemplar

Visit at age: 17 years

Fundus Photography - Right - 20/70 -2

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Fundus Photography - Left - 20/80 -1

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Fundus Montage - Right - 20/70 -2

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Fundus Montage - Left - 20/80 -1

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Goldmann Visual Field - Right - 20/70 -2

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Goldmann Visual Field - Left - 20/80 -1

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Optical Coherence Tomography - Right - 20/70 -2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/80 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/70 -2

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Infrared Fundus Photograph - Left - 20/80 -1

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Visit at age: 19 years

Goldmann Visual Field - Right - 20/100 +1

Exemplar

Goldmann Visual Field - Left - 20/80 -2

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Optical Coherence Tomography - Right - 20/100 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/80 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/100 +1

Exemplar

Infrared Fundus Photograph - Left - 20/80 -2

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Visit at age: 22 years

Goldmann Visual Field - Right - 20/100

Exemplar

Goldmann Visual Field - Left - 20/100

Exemplar

Optical Coherence Tomography - Right - 20/100

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/100

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/100

Exemplar

Infrared Fundus Photograph - Left - 20/100

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Visit at age: 25 years

Goldmann Visual Field - Right - 20/63 -1

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Goldmann Visual Field - Left - 20/80

Exemplar

Optical Coherence Tomography - Right - 20/63 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/80

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/63 -1

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Infrared Fundus Photograph - Left - 20/80

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
ECORD CEP290 Leu750Stop TTA>TGA Gln2350Stop CAG>TAG AR
Disease:
ECORD
Gene:
CEP290
Allele 1:
Leu750Stop TTA>TGA
Allele 2:
Gln2350Stop CAG>TAG
Inheritance:
AR
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