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StoneRounds Disease Atlas SR73

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SR73

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AD Familial Exudative Vitreoretinopathy (IIIE2b)

Male

Male

SR73

Ladder View Download View

AD Familial Exudative Vitreoretinopathy (IIIE2b)

Male

Male

Visit at age: 23 months

Fundus Photography - Right - UCUSUM

Exemplar

Fundus Photography - Left - CUSM

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Visit at age: 2 years

Fundus Photography - Right - UCUSUM

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Fundus Photography - Left - CUSM

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Visit at age: 4 years

Fundus Photography - Right - 4/100 sc

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Fundus Photography - Left - 6/100 sc

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Visit at age: 5 years

Fundus Photography - Right - 20/125

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Fundus Photography - Left - 20/200

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Optical Coherence Tomography - Right - 20/125

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Optical Coherence Tomography - Left - 20/200

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Infrared Fundus Photograph - Right - 20/125

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Infrared Fundus Photograph - Left - 20/200

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Visit at age: 6 years

Fundus Photography - Right - 20/300

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Fundus Photography - Left - 20/250

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Visit at age: 6 years (Visit 2)

Fundus Photography - Right - 10/200

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Fundus Photography - Left - 20/250

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Optical Coherence Tomography - Right - 10/200

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

Optical Coherence Tomography - Left - 20/250

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 10/200

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Infrared Fundus Photograph - Left - 20/250

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Visit at age: 7 years

Fundus Photography - Right - 10/300

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Fundus Photography - Left - 20/250

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Visit at age: 8 years

Fundus Photography - Right - 20/400

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Fundus Photography - Left - 20/150

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Visit at age: 8 years (Visit 2)

Fundus Photography - Right - 10/300

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Fundus Photography - Left - 20/300

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Visit at age: 9 years

Fundus Photography - Right - 10/150

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Fundus Photography - Left - 20/300

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Visit at age: 10 years

Fundus Photography - Right - 10/200

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Fundus Photography - Left - 20/400

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Visit at age: 11 years

Fundus Photography - Right - 20/250

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Fundus Photography - Left - 20/250

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Fundus Montage - Left - 20/250

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Visit at age: 12 years

Fundus Photography - Right - 20/400

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Fundus Photography - Left - 20/200

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Fundus Montage - Left - 20/200

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Visit at age: 12 years (Visit 2)

B-Scan Ultrasonography - Right - 20/600

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B-Scan Ultrasonography - Left - 20/300

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Visit at age: 13 years

Fundus Photography - Right - 20/250

Exemplar

Fundus Photography - Left - 20/250

Exemplar

Visit at age: 13 years (Visit 2)

Fundus Photography - Right - 20/500

Exemplar

Fundus Photography - Left - 20/300

Exemplar

Optical Coherence Tomography - Right - 20/500

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/300

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/500

Exemplar

Infrared Fundus Photograph - Left - 20/300

Exemplar

B-Scan Ultrasonography - Right - 20/500

Exemplar

B-Scan Ultrasonography - Left - 20/300

Exemplar

Visit at age: 14 years

Fundus Photography - Right - 20/250

Exemplar

Fundus Photography - Left - 20/200

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Visit at age: 14 years (Visit 2)

Fundus Photography - Right - 20/400

Exemplar

Fundus Photography - Left - 20/250

Exemplar

B-Scan Ultrasonography - Right - 20/400

Exemplar

B-Scan Ultrasonography - Left - 20/250

Exemplar

Visit at age: 15 years

Fundus Photography - Right - 20/250

Exemplar

Fundus Photography - Left - 20/150

Exemplar

B-Scan Ultrasonography - Right - 20/250

Exemplar

B-Scan Ultrasonography - Left - 20/150

Exemplar

Visit at age: 15 years (Visit 2)

Fundus Photography - Right - 20/400

Exemplar

Fundus Photography - Left - 20/400

Exemplar

B-Scan Ultrasonography - Right - 20/400

Exemplar

B-Scan Ultrasonography - Left - 20/400

Exemplar

Visit at age: 16 years

Fundus Photography - Right - 20/300

Exemplar

Fundus Photography - Left - 20/300

Exemplar

B-Scan Ultrasonography - Right - 20/300

Exemplar

B-Scan Ultrasonography - Left - 20/300

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Familial Exudative Vitreoretinopathy FZD4 Ser228Arg AGC>CGC   AD
Disease:
AD Familial Exudative Vitreoretinopathy
Gene:
FZD4
Allele 1:
Ser228Arg AGC>CGC
Allele 2:
 
Inheritance:
AD
Cite this case