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StoneRounds Disease Atlas SR83

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SR83

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Posterior Column Ataxia with Retinitis Pigmentosa (IB7a)

Male

Male

SR83

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Posterior Column Ataxia with Retinitis Pigmentosa (IB7a)

Male

Male

Visit at age: 21 years

Fundus Photography - Right - 20/40 sc

Exemplar

Fundus Photography - Left - 20/40 sc

Exemplar

Fundus Montage - Right - 20/40 sc

Exemplar

Fundus Montage - Left - 20/40 sc

Exemplar

Goldmann Visual Field - Right - 20/40 sc

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Goldmann Visual Field - Left - 20/40 sc

Exemplar

Visit at age: 28 years

Fundus Photography - Right - 20/60 +1 sc

Exemplar

Fundus Photography - Left - 20/50 -1 sc

Exemplar

Fundus Montage - Right - 20/60 +1 sc

Exemplar

Fundus Montage - Left - 20/50 -1 sc

Exemplar

Goldmann Visual Field - Right - 20/60 +1 sc

Exemplar

Goldmann Visual Field - Left - 20/50 -1 sc

Exemplar

Optical Coherence Tomography - Right - 20/60 +1 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 -1 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/60 +1 sc

Exemplar

Infrared Fundus Photograph - Left - 20/50 -1 sc

Exemplar

Visit at age: 31 years

Goldmann Visual Field - Right - 20/50 +1

Exemplar

Goldmann Visual Field - Left - 20/40 +1

Exemplar

Optical Coherence Tomography - Right - 20/50 +1

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 - 20/50 +1

Exemplar

Infrared Fundus Photograph - Left - 20/40 +1

Exemplar

Visit at age: 33 years

Fundus Photography - Right - 20/50 -1

Exemplar

Fundus Photography - Left - 20/50 -2

Exemplar

Goldmann Visual Field - Right - 20/50 -1

Exemplar

Goldmann Visual Field - Left - 20/50 -2

Exemplar

Optical Coherence Tomography - Right - 20/50 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50 -1

Exemplar

Infrared Fundus Photograph - Left - 20/50 -2

Exemplar

Visit at age: 36 years

Goldmann Visual Field - Right - 20/50 +1 sc

Exemplar

Goldmann Visual Field - Left - 20/50 +2 sc

Exemplar

Optical Coherence Tomography - Right - 20/50 +1 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 +2 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50 +1 sc

Exemplar

Infrared Fundus Photograph - Left - 20/50 +2 sc

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Posterior Column Ataxia with Retinitis Pigmentosa FLVCR1 Asn121Asp AAC>GAC Asn121Asp AAC>GAC AR
Disease:
Posterior Column Ataxia with Retinitis Pigmentosa
Gene:
FLVCR1
Allele 1:
Asn121Asp AAC>GAC
Allele 2:
Asn121Asp AAC>GAC
Inheritance:
AR
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