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StoneRounds Disease Atlas SR1206

SR1206

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XL Retinitis Pigmentosa (IA1ai)

Female

Female

SR1206

Ladder View Download View

XL Retinitis Pigmentosa (IA1ai)

Female

Female

Visit at age: 41 years

Fundus Photography - Right - 10/180

Exemplar

Fundus Photography - Left - 20/40

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Fundus Montage - Right - 10/180

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Fundus Montage - Left - 20/40

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Goldmann Visual Field - Right - 10/180

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Goldmann Visual Field - Left - 20/40

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Optical Coherence Tomography - Right - 10/180

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 10/180

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Infrared Fundus Photograph - Left - 20/40

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Visit at age: 42 years

Goldmann Visual Field - Right - 10/300

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Goldmann Visual Field - Left - 20/40 +1

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Optical Coherence Tomography - Right - 10/300

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 - 10/300

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Infrared Fundus Photograph - Left - 20/40 +1

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Visit at age: 44 years

Goldmann Visual Field - Right - 10/400

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Goldmann Visual Field - Left - 20/50

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Optical Coherence Tomography - Right - 10/400

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 10/400

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Infrared Fundus Photograph - Left - 20/50

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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 Val257 del3gTTC   XL
Disease:
XL Retinitis Pigmentosa
Gene:
RPGR
Allele 1:
Val257 del3gTTC
Allele 2:
 
Inheritance:
XL
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