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SR2154

AD Neovascular Inflammatory Vitreoretinopathy (IIIE3)

Male

Male

SR2154

AD Neovascular Inflammatory Vitreoretinopathy (IIIE3)

Male

Male

Visit at age: 10 years

Fundus Photography - Right - 20/20 sc

Exemplar

Fundus Photography - Left - 20/20 sc

Exemplar

Visit at age: 23 years

Fundus Photography - Right - 20/50 -1 sc

Exemplar

Fundus Photography - Left - 20/60 sc

Exemplar

Fluorescein Angiography - Right - 20/50 -1 sc

Exemplar

Fluorescein Angiography - Left - 20/60 sc

Exemplar

Visit at age: 24 years

Fundus Photography - Left - 20/60 -1 sc

Exemplar

Fundus Montage - Left - 20/60 -1 sc

Exemplar

Visit at age: 24 years (Visit 2)

Fundus Photography - Right - 20/60 -2 sc

Exemplar

Fundus Photography - Left - 20/60 -2 sc

Exemplar

Fundus Montage - Left - 20/60 -2 sc

Exemplar

Visit at age: 25 years

Fundus Photography - Right - 20/400 sc

Exemplar

Fundus Photography - Left - 20/70 -1 sc

Exemplar

Goldmann Visual Field - Right - 20/400 sc

Exemplar

Visit at age: 25 years (Visit 2)

Fundus Photography - Right - 20/200 +1

Exemplar

Fundus Photography - Left - 20/50 +1

Exemplar

Goldmann Visual Field - Right - 20/200 +1

Exemplar

Goldmann Visual Field - Left - 20/50 +1

Exemplar

Visit at age: 25 years (Visit 3)

Fundus Photography - Right - 20/160

Exemplar

Fundus Photography - Left - 20/60 -2

Exemplar

Visit at age: 25 years (Visit 4)

Fundus Photography - Right - Count Fingers 2'

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Fundus Photography - Left - 20/60

Exemplar

Visit at age: 25 years (Visit 5)

Fundus Photography - Right - 20/160

Exemplar

Visit at age: 26 years

Fundus Photography - Right - 20/100 +1 sc

Exemplar

Fundus Photography - Left - 20/200

Exemplar

Visit at age: 27 years

Optical Coherence Tomography - Right - 20/100 sc

Exemplar / OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/200 sc

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/100 sc

Exemplar

Infrared Fundus Photograph - Left - 20/200 sc

Exemplar

Visit at age: 28 years

Goldmann Visual Field - Right - 20/100 -1 sc

Exemplar

Goldmann Visual Field - Left - 20/200 sc

Exemplar

Visit at age: 30 years

Optical Coherence Tomography - Right - 20/150 sc

Exemplar / OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/100 sc

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/150 sc

Exemplar

Infrared Fundus Photograph - Left - 20/100 sc

Exemplar

Visit at age: 31 years

Goldmann Visual Field - Right - 20/160 sc

Exemplar

Goldmann Visual Field - Left - 10/140 sc

Exemplar

Visit at age: 32 years

Fundus Photography - Right - 20/125 -2 sc

Exemplar

Fundus Photography - Left - 20/200 +2 sc

Exemplar

Goldmann Visual Field - Right - 20/125 -2 sc

Exemplar

Goldmann Visual Field - Left - 20/200 +2 sc

Exemplar

Optical Coherence Tomography - Right - 20/125 -2 sc

Exemplar / OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/200 +2 sc

Exemplar / OCT Stack

OCT Stack

Infrared Fundus Photograph - Right - 20/125 -2 sc

Exemplar

Infrared Fundus Photograph - Left - 20/200 +2 sc

Exemplar

Visit at age: 33 years

Fundus Photography - Right - 20/300 sc

Exemplar

Fundus Photography - Left - 20/200 sc

Exemplar

B-Scan Ultrasonography - Right - 20/300 sc

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B-Scan Ultrasonography - Left - 20/200 sc

Exemplar

Visit at age: 33 years (Visit 2)

Goldmann Visual Field - Right - 20/250 sc

Exemplar

Goldmann Visual Field - Left - 20/250 sc

Exemplar

Visit at age: 35 years

Goldmann Visual Field - Right - Hand Motion

Exemplar

Goldmann Visual Field - Left - 20/600 sc

Exemplar

Optical Coherence Tomography - Right - Hand Motion

Exemplar / OCT Stack

OCT Stack

Optical Coherence Tomography - Left - 20/600 sc

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - Hand Motion

Exemplar

Infrared Fundus Photograph - Left - 20/600 sc

Exemplar

Visit at age: 35 years (Visit 2)

Optical Coherence Tomography - Right - Light Perception

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - Light Perception

Exemplar

B-Scan Ultrasonography - Left - Hand Motion

Exemplar

Visit at age: 37 years

B-Scan Ultrasonography - Right - Light Perception

Exemplar

B-Scan Ultrasonography - Left - No Light Perception

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
AD Neovascular Inflammatory Vitreoretinopathy	CAPN5	Arg243Leu CGC>CTC		AD

Disease:

AD Neovascular Inflammatory Vitreoretinopathy

Gene:

Allele 1:

Arg243Leu CGC>CTC

Allele 2:

Inheritance:

AD

Cite this case