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StoneRounds Disease Atlas SR1339

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SR1339

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XL Retinitis Pigmentosa (IA1ai)

Male

Male

SR1339

Ladder View Download View

XL Retinitis Pigmentosa (IA1ai)

Male

Male

Visit at age: 7 years

Fundus Photography - Right - 20/500 sc

Exemplar

Fundus Photography - Left - 20/500 sc

Exemplar

Visit at age: 10 years

Goldmann Visual Field - Right - 20/25

Exemplar

Goldmann Visual Field - Left - 20/25 -1

Exemplar

Visit at age: 11 years

Goldmann Visual Field - Right - 20/40

Exemplar

Goldmann Visual Field - Left - 20/40 -2

Exemplar

Visit at age: 12 years

Goldmann Visual Field - Right - 20/30

Exemplar

Goldmann Visual Field - Left - 20/40 -2

Exemplar

Visit at age: 34 years

Fundus Photography - Right - 20/63 -1

Exemplar

Fundus Photography - Left - 20/50

Exemplar

Goldmann Visual Field - Right - 20/63 -1

Exemplar

Goldmann Visual Field - Left - 20/50

Exemplar

Optical Coherence Tomography - Right - 20/63 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/63 -1

Exemplar

Infrared Fundus Photograph - Left - 20/50

Exemplar

Visit at age: 39 years

Goldmann Visual Field - Right - 20/200

Exemplar

Goldmann Visual Field - Left - 20/100

Exemplar

Optical Coherence Tomography - Right - 20/200

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/100

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200

Exemplar

Infrared Fundus Photograph - Left - 20/100

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Retinitis Pigmentosa RPGR Gln710Stop CAG>TAG   XL
Disease:
XL Retinitis Pigmentosa
Gene:
RPGR
Allele 1:
Gln710Stop CAG>TAG
Allele 2:
 
Inheritance:
XL
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