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StoneRounds Disease Atlas SR2689

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SR2689

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XL Retinitis Pigmentosa (IA1ai)

Female

Female

SR2689

Ladder View Download View

XL Retinitis Pigmentosa (IA1ai)

Female

Female

Visit at age: 57 years

Fundus Photography - Right - 20/32

Exemplar

Fundus Photography - Left - 20/160

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Fundus Montage - Right - 20/32

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Fundus Montage - Left - 20/160

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Goldmann Visual Field - Right - 20/32

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Goldmann Visual Field - Left - 20/160

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Optical Coherence Tomography - Right - 20/32

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/160

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/32

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Infrared Fundus Photograph - Left - 20/160

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Visit at age: 58 years

Optical Coherence Tomography - Right - 20/25 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/200

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 -2

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Infrared Fundus Photograph - Left - 20/200

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Visit at age: 58 years (Visit 2)

Optical Coherence Tomography - Left - 20/200

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Left - 20/200

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Visit at age: 58 years (Visit 3)

Fundus Photography - Left - 20/80

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Optical Coherence Tomography - Left - 20/80

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Left - 20/80

Exemplar

Visit at age: 58 years (Visit 4)

Optical Coherence Tomography - Left - 20/125 +1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Left - 20/125 +1

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Visit at age: 59 years

Optical Coherence Tomography - Right - 20/20 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/100

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 -2

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Infrared Fundus Photograph - Left - 20/100

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Retinitis Pigmentosa RPGR Gly743 ins1ggA   XL
Disease:
XL Retinitis Pigmentosa
Gene:
RPGR
Allele 1:
Gly743 ins1ggA
Allele 2:
 
Inheritance:
XL
Cite this case