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StoneRounds Disease Atlas SR806

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SR806

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Leber Congenital Amaurosis (IA2a)

Female

Female

SR806

Ladder View Download View

Leber Congenital Amaurosis (IA2a)

Female

Female

Visit at age: 7 years

Fundus Photography - Right - 20/40 -2

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Goldmann Visual Field - Left - 20/40 -1

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OCT Stack

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Visit at age: 7 years (Visit 2)

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Optical Coherence Tomography - Right - 20/40

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OCT Stack

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OCT Stack
OCT Stack

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Visit at age: 8 years

Goldmann Visual Field - Right - 20/40 -2

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Optical Coherence Tomography - Right - 20/40 -2

Exemplar / OCT Stack
OCT Stack

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OCT Stack

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Visit at age: 9 years

Goldmann Visual Field - Right - 20/40 +2

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Goldmann Visual Field - Left - 20/40

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Optical Coherence Tomography - Right - 20/40 +2

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OCT Stack

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OCT Stack

Infrared Fundus Photograph - Right - 20/40 +2

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Visit at age: 10 years

Goldmann Visual Field - Right - 20/50

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Goldmann Visual Field - Left - 20/50

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Optical Coherence Tomography - Right - 20/50

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OCT Stack

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OCT Stack

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Visit at age: 12 years

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Optical Coherence Tomography - Right - 20/32 +1

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OCT Stack

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OCT Stack

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Visit at age: 13 years

Goldmann Visual Field - Right - 20/40

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OCT Stack
OCT Stack

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OCT Stack
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Visit at age: 14 years

Goldmann Visual Field - Right - 20/32

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Optical Coherence Tomography - Right - 20/32

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OCT Stack
OCT Stack

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OCT Stack
OCT Stack

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Visit at age: 15 years

Goldmann Visual Field - Right - 20/32 +1

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OCT Stack
OCT Stack

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OCT Stack
OCT Stack

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Visit at age: 16 years

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OCT Stack
OCT Stack

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OCT Stack
OCT Stack

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Visit at age: 17 years

Goldmann Visual Field - Right - 20/32 +2

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Optical Coherence Tomography - Right - 20/32 +2

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OCT Stack

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OCT Stack
OCT Stack

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Visit at age: 19 years

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Optical Coherence Tomography - Right - 20/32

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OCT Stack
OCT Stack

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OCT Stack
OCT Stack

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Visit at age: 21 years

Optical Coherence Tomography - Right - 20/25 -2

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OCT Stack
OCT Stack

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OCT Stack
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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Leber Congenital Amaurosis RNU6-9 n.55_56ins1cG   AD
Disease:
Leber Congenital Amaurosis
Gene:
RNU6-9
Allele 1:
n.55_56ins1cG
Allele 2:
 
Inheritance:
AD
Cite this case