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StoneRounds Disease Atlas SR1213

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SR1213

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XL Retinitis Pigmentosa (IA1ai)

Female

Female

SR1213

Ladder View Download View

XL Retinitis Pigmentosa (IA1ai)

Female

Female

Visit at age: 27 years

Fundus Photography - Right - 20/20 +1

Exemplar

Fundus Photography - Left - 20/20 +2

Exemplar

Goldmann Visual Field - Right - 20/20 +1

Exemplar

Goldmann Visual Field - Left - 20/20 +2

Exemplar

Optical Coherence Tomography - Right - 20/20 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 +1

Exemplar

Infrared Fundus Photograph - Left - 20/20 +2

Exemplar

Visit at age: 30 years

Fundus Photography - Right - 20/20

Exemplar

Fundus Photography - Left - 20/16 -1

Exemplar

Goldmann Visual Field - Right - 20/20

Exemplar

Goldmann Visual Field - Left - 20/16 -1

Exemplar

Optical Coherence Tomography - Right - 20/20

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/16 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20

Exemplar

Infrared Fundus Photograph - Left - 20/16 -1

Exemplar

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
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