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StoneRounds Disease Atlas SR170

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SR170

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ECORD (IA2c)

Male

Male

SR170

Ladder View Download View

ECORD (IA2c)

Male

Male

Visit at age: 5 years

Goldmann Visual Field - Right - 20/50 -1

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Goldmann Visual Field - Left - 20/50 -1

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Visit at age: 7 years

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Fundus Photography - Left - 20/50 +1

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Fundus Montage - Left - 20/50 +1

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Goldmann Visual Field - Right - 20/50 -1

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Goldmann Visual Field - Left - 20/50 +1

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Visit at age: 8 years

Goldmann Visual Field - Right - 20/60 +2

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Goldmann Visual Field - Left - 20/40 -2

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Visit at age: 9 years

Fundus Photography - Right - 20/80 +2

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Fundus Photography - Left - 20/50 -2

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Goldmann Visual Field - Right - 20/80 +2

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Optical Coherence Tomography - Right - 20/80 +2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 -2

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Infrared Fundus Photograph - Right - 20/80 +2

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Visit at age: 11 years

Goldmann Visual Field - Right - 20/50 -2

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Goldmann Visual Field - Left - 20/50 +1

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Visit at age: 12 years

Goldmann Visual Field - Right - 20/50 -1

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Goldmann Visual Field - Left - 20/40

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Optical Coherence Tomography - Right - 20/50 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40

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OCT Stack

Infrared Fundus Photograph - Right - 20/50 -1

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Infrared Fundus Photograph - Left - 20/40

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Visit at age: 13 years

Optical Coherence Tomography - Right - 20/50

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 -2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50

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Infrared Fundus Photograph - Left - 20/40 -2

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Visit at age: 14 years

Goldmann Visual Field - Right - 20/50 +2

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Goldmann Visual Field - Left - 20/40 -1

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Optical Coherence Tomography - Right - 20/50 +2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 -1

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OCT Stack

Infrared Fundus Photograph - Right - 20/50 +2

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Infrared Fundus Photograph - Left - 20/40 -1

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Visit at age: 17 years

Fundus Photography - Right - 20/40 -1

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Fundus Photography - Left - 20/40

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Fundus Montage - Right - 20/40 -1

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Fundus Montage - Left - 20/40

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Goldmann Visual Field - Right - 20/40 -1

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Goldmann Visual Field - Left - 20/40

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Optical Coherence Tomography - Right - 20/40 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 -1

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Infrared Fundus Photograph - Left - 20/40

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Visit at age: 19 years

Goldmann Visual Field - Right - 20/40 +1

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Goldmann Visual Field - Left - 20/40 +1

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Optical Coherence Tomography - Right - 20/40 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 +1

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OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 +1

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Infrared Fundus Photograph - Left - 20/40 +1

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
ECORD RPGR Leu174 del1ttA   XL
Disease:
ECORD
Gene:
RPGR
Allele 1:
Leu174 del1ttA
Allele 2:
 
Inheritance:
XL
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