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StoneRounds Disease Atlas SR418

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SR418

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Recessive Retinoschisis (IIIB2)

Female

Female

SR418

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Recessive Retinoschisis (IIIB2)

Female

Female

Visit at age: 15 years

Fundus Photography - Right - 20/40 +1

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OCT Stack

Optical Coherence Tomography - Left - 20/50

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Visit at age: 15 years (Visit 2)

Goldmann Visual Field - Right - 20/50 +2

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OCT Stack

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OCT Stack

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Visit at age: 16 years

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OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 +2

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OCT Stack
OCT Stack

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Visit at age: 17 years

Goldmann Visual Field - Right - 20/25 +2

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Optical Coherence Tomography - Right - 20/25 +2

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OCT Stack
OCT Stack

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OCT Stack
OCT Stack

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Visit at age: 18 years

Goldmann Visual Field - Right - 20/20 -3

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Goldmann Visual Field - Left - 20/20 -2

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Optical Coherence Tomography - Right - 20/20 -3

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OCT Stack
OCT Stack
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Optical Coherence Tomography - Left - 20/20 -2

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OCT Stack
OCT Stack
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Infrared Fundus Photograph - Right - 20/20 -3

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Visit at age: 20 years

Goldmann Visual Field - Right - 20/20 -2

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Goldmann Visual Field - Left - 20/25 -2

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Optical Coherence Tomography - Right - 20/20 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 -2

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OCT Stack
OCT Stack

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Visit at age: 22 years

Goldmann Visual Field - Right - 20/25

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Optical Coherence Tomography - Right - 20/25

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OCT Stack
OCT Stack

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OCT Stack
OCT Stack

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Recessive Retinoschisis CRB1 Asp165 del9cagGATGGAATT Arg764Cys CGT>TGT AR
Disease:
Recessive Retinoschisis
Gene:
CRB1
Allele 1:
Asp165 del9cagGATGGAATT
Allele 2:
Arg764Cys CGT>TGT
Inheritance:
AR
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