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StoneRounds Disease Atlas SR1174

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SR1174

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XL Retinitis Pigmentosa (IA1ai)

Female

Female

SR1174

Ladder View Download View

XL Retinitis Pigmentosa (IA1ai)

Female

Female

Visit at age: 35 years

Fundus Photography - Right - 20/20

Exemplar

Fundus Photography - Left - 20/20 -1

Exemplar

Fundus Montage - Right - 20/20

Exemplar

Fundus Montage - Left - 20/20 -1

Exemplar

Goldmann Visual Field - Right - 20/20

Exemplar

Goldmann Visual Field - Left - 20/20 -1

Exemplar

Optical Coherence Tomography - Right - 20/20

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20

Exemplar

Infrared Fundus Photograph - Left - 20/20 -1

Exemplar

Blue Autofluorescence - Right - 20/20

Exemplar

Blue Autofluorescence - Left - 20/20 -1

Exemplar

Visit at age: 38 years

Fundus Photography - Right - 20/25 -1 sc

Exemplar

Fundus Photography - Left - 20/40 sc

Exemplar

Fundus Montage - Left - 20/40 sc

Exemplar

Goldmann Visual Field - Right - 20/25 -1 sc

Exemplar

Goldmann Visual Field - Left - 20/40 sc

Exemplar

Optical Coherence Tomography - Right - 20/25 -1 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 -1 sc

Exemplar

Infrared Fundus Photograph - Left - 20/40 sc

Exemplar

Blue Autofluorescence - Right - 20/25 -1 sc

Exemplar

Blue Autofluorescence - Left - 20/40 sc

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Retinitis Pigmentosa RPGR Glu139Stop GAG>TAG   XL
Disease:
XL Retinitis Pigmentosa
Gene:
RPGR
Allele 1:
Glu139Stop GAG>TAG
Allele 2:
 
Inheritance:
XL
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