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SR818

MCL (IB6)

Male

Male

SR818

MCL (IB6)

Male

Male

Visit at age: 10 years

Goldmann Visual Field - Right - 20/63 +1

Exemplar

Goldmann Visual Field - Left - 20/32

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Optical Coherence Tomography - Right - 20/63 +1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/63 +1

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Infrared Fundus Photograph - Left - 20/32

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Visit at age: 10 years (Visit 2)

Fundus Photography - Right - 20/63 +2

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Fundus Photography - Left - 20/32 +1

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Goldmann Visual Field - Right - 20/63 +2

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Goldmann Visual Field - Left - 20/32 +1

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Optical Coherence Tomography - Right - 20/63 +2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32 +1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/63 +2

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Infrared Fundus Photograph - Left - 20/32 +1

Exemplar

Visit at age: 12 years

Fundus Photography - Right - 20/63 -1

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Fundus Photography - Left - 20/32 -1

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Goldmann Visual Field - Right - 20/63 -1

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Goldmann Visual Field - Left - 20/32 -1

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Optical Coherence Tomography - Right - 20/63 -1

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/32 -1

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/63 -1

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Infrared Fundus Photograph - Left - 20/32 -1

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Visit at age: 13 years

Fundus Photography - Right - 20/63 -2

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Fundus Photography - Left - 20/40

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Goldmann Visual Field - Right - 20/63 -2

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Goldmann Visual Field - Left - 20/40

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Optical Coherence Tomography - Right - 20/63 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/63 -2

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Infrared Fundus Photograph - Left - 20/40

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Visit at age: 15 years

Goldmann Visual Field - Right - 20/100

Exemplar

Goldmann Visual Field - Left - 20/40 -1

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Optical Coherence Tomography - Right - 20/100

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/100

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Infrared Fundus Photograph - Left - 20/40 -1

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Blue Autofluorescence - Right - 20/100

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Visit at age: 17 years

Fundus Photography - Right - 20/125 -1

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Fundus Photography - Left - 20/50 +1

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Goldmann Visual Field - Right - 20/125 -1

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Goldmann Visual Field - Left - 20/50 +1

Exemplar

Optical Coherence Tomography - Right - 20/125 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 +1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/125 -1

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Infrared Fundus Photograph - Left - 20/50 +1

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
MCL KIF11 Ser233Asn AG(T)>AA(T)   AD
Disease:
Gene:
Allele 1:
Ser233Asn AG(T)>AA(T)
Allele 2:
 
Inheritance:
AD
Cite this case