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StoneRounds Disease Atlas SR994

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SR994

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AR Retinitis Pigmentosa (IA1aiii)

Female

Female

SR994

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AR Retinitis Pigmentosa (IA1aiii)

Female

Female

Visit at age: 28 years

Fundus Photography - Right - 20/25

Exemplar

Fundus Photography - Left - 20/32 -2

Exemplar

Fundus Montage - Right - 20/25

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Fundus Montage - Left - 20/32 -2

Exemplar

Optical Coherence Tomography - Right - 20/25

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/32 -2

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/25

Exemplar

Infrared Fundus Photograph - Left - 20/32 -2

Exemplar

Visit at age: 29 years

Goldmann Visual Field - Right - 20/25 -2

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Goldmann Visual Field - Left - 20/25 -2

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Optical Coherence Tomography - Right - 20/25 -2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 -2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 -2

Exemplar

Infrared Fundus Photograph - Left - 20/25 -2

Exemplar

Visit at age: 31 years

Goldmann Visual Field - Right - 20/50 -2

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Goldmann Visual Field - Left - 20/50

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Optical Coherence Tomography - Right - 20/50 -2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50 -2

Exemplar

Infrared Fundus Photograph - Left - 20/50

Exemplar

Visit at age: 36 years

Fundus Photography - Right - 20/32 -2

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Fundus Photography - Left - 20/40 +2

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Goldmann Visual Field - Right - 20/32 -2

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Goldmann Visual Field - Left - 20/40 +2

Exemplar

Optical Coherence Tomography - Right - 20/32 -2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 +2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/32 -2

Exemplar

Infrared Fundus Photograph - Left - 20/40 +2

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Blue Autofluorescence - Right - 20/32 -2

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Blue Autofluorescence - Left - 20/40 +2

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Visit at age: 40 years

Goldmann Visual Field - Right - 20/32 +2

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Goldmann Visual Field - Left - 20/32 -2

Exemplar

Optical Coherence Tomography - Right - 20/32 +2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32 -2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/32 +2

Exemplar

Infrared Fundus Photograph - Left - 20/32 -2

Exemplar

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Retinitis Pigmentosa ZNF408 His455Tyr CAT>TAT Arg567Stop CGA>TGA AR
Disease:
AR Retinitis Pigmentosa
Gene:
ZNF408
Allele 1:
His455Tyr CAT>TAT
Allele 2:
Arg567Stop CGA>TGA
Inheritance:
AR
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