SR57

Stickler Syndrome (IIIE1)

Female

Female

SR57

Stickler Syndrome (IIIE1)

Female

Female

Visit at age: 30 years

Fundus Photography - Right - 20/500

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Goldmann Visual Field - Right - 20/500

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Fluorescein Angiography - Left - 20/40

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Visit at age: 30 years (Visit 2)

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Visit at age: 53 years

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Visit at age: 57 years

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Optical Coherence Tomography - Right - 20/25 -2

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Visit at age: 57 years (Visit 2)

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Exemplar / OCT Stack
OCT Stack

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Infrared Fundus Photograph - Left - 20/125 -1 sc

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Visit at age: 58 years

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Visit at age: 58 years (Visit 2)

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Visit at age: 59 years

Goldmann Visual Field - Right - 20/25

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Visit at age: 60 years

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Goldmann Visual Field - Left - 20/125 -1 sc

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Visit at age: 61 years

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Fundus Montage - Left - 20/200 sc

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Optical Coherence Tomography - Right - 20/25 -3

Exemplar / OCT Stack
OCT Stack

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OCT Stack

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Visit at age: 65 years

Fundus Photography - Right - 20/25

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Fundus Photography - Left - 20/125

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Optical Coherence Tomography - Right - 20/25

Exemplar / OCT Stack
OCT Stack

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OCT Stack

Infrared Fundus Photograph - Right - 20/25

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Infrared Fundus Photograph - Left - 20/125

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Visit at age: 65 years (Visit 2)

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Fundus Photography - Left - 20/125 +1

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Fundus Montage - Right - 20/25 -2

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Fundus Montage - Left - 20/125 +1

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Optical Coherence Tomography - Right - 20/25 -2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/125 +1

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OCT Stack

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Infrared Fundus Photograph - Left - 20/125 +1

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Visit at age: 66 years

Fundus Photography - Right - 20/32 -1

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Fundus Photography - Left - 20/160

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Optical Coherence Tomography - Right - 20/32 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/160

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/32 -1

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Infrared Fundus Photograph - Left - 20/160

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Visit at age: 69 years

Optical Coherence Tomography - Right - 20/25 -2

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OCT Stack

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OCT Stack

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Teaching Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Stickler Syndrome COL2A1 Arg785Stop CGA>TGA   AD
Gene:
Allele 1:
Arg785Stop CGA>TGA
Allele 2:
 
Inheritance:
AD
Cite this case