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StoneRounds Disease Atlas SR644

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SR644

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Leber Congenital Amaurosis (IA2a)

Male

Male

SR644

Ladder View Download View

Leber Congenital Amaurosis (IA2a)

Male

Male

Visit at age: 5 years

Fundus Photography - Right - No Light Perception

Exemplar

Fundus Photography - Left - No Light Perception

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Visit at age: 10 years

Fundus Photography - Right - No Light Perception

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Fundus Photography - Left - No Light Perception

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Fundus Montage - Right - No Light Perception

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Fundus Montage - Left - No Light Perception

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Visit at age: 12 years

Optical Coherence Tomography - Right - No Light Perception

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Optical Coherence Tomography - Left - No Light Perception

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Infrared Fundus Photograph - Right - No Light Perception

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Infrared Fundus Photograph - Left - No Light Perception

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Visit at age: 15 years

Optical Coherence Tomography - Right - No Light Perception

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Optical Coherence Tomography - Left - Light Perception

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Infrared Fundus Photograph - Right - No Light Perception

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Infrared Fundus Photograph - Left - Light Perception

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Visit at age: 16 years

Fundus Photography - Right - Light Perception

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Fundus Photography - Left - Light Perception

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Fundus Montage - Right - Light Perception

Exemplar

Fundus Montage - Left - Light Perception

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Optical Coherence Tomography - Right - Light Perception

Exemplar

Optical Coherence Tomography - Left - Light Perception

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Infrared Fundus Photograph - Right - Light Perception

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Infrared Fundus Photograph - Left - Light Perception

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Visit at age: 17 years

Optical Coherence Tomography - Right - Light Perception

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Light Perception

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Light Perception

Exemplar

Infrared Fundus Photograph - Left - Light Perception

Exemplar

Visit at age: 18 years

Fundus Photography - Right - Light Perception

Exemplar

Fundus Photography - Left - Light Perception

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Visit at age: 20 years

Optical Coherence Tomography - Right - No Light Perception

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Light Perception

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - No Light Perception

Exemplar

Infrared Fundus Photograph - Left - Light Perception

Exemplar

Visit at age: 20 years (Visit 2)

Optical Coherence Tomography - Right - No Light Perception

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Light Perception

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - No Light Perception

Exemplar

Infrared Fundus Photograph - Left - Light Perception

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Visit at age: 21 years

Optical Coherence Tomography - Left - Light Perception

Exemplar / OCT Stack

Infrared Fundus Photograph - Left - Light Perception

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B-Scan Ultrasonography - Right - No Light Perception

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B-Scan Ultrasonography - Left - Light Perception

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Visit at age: 21 years (Visit 2)

Optical Coherence Tomography - Right - No Light Perception

Exemplar / OCT Stack

Optical Coherence Tomography - Left - Light Perception

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Infrared Fundus Photograph - Right - No Light Perception

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Infrared Fundus Photograph - Left - Light Perception

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Visit at age: 22 years

Optical Coherence Tomography - Right - No Light Perception

Exemplar / OCT Stack

Optical Coherence Tomography - Left - Light Perception

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - No Light Perception

Exemplar

Infrared Fundus Photograph - Left - Light Perception

Exemplar

Visit at age: 22 years (Visit 2)

Optical Coherence Tomography - Right - No Light Perception

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Light Perception

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - No Light Perception

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Infrared Fundus Photograph - Left - Light Perception

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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 CEP290 Thr835 del2acAG IVS26+1655 A>G AR
Disease:
Leber Congenital Amaurosis
Gene:
CEP290
Allele 1:
Thr835 del2acAG
Allele 2:
IVS26+1655 A>G
Inheritance:
AR
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