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StoneRounds Disease Atlas SR327

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SR327

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XL Retinitis Pigmentosa (IA1ai)

Male

Male

SR327

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XL Retinitis Pigmentosa (IA1ai)

Male

Male

Visit at age: 17 years

Fundus Photography - Right - 20/32 -1

Exemplar

Fundus Photography - Left - 20/32 -1

Exemplar

Fundus Montage - Right - 20/32 -1

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Fundus Montage - Left - 20/32 -1

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Goldmann Visual Field - Right - 20/32 -1

Exemplar

Goldmann Visual Field - Left - 20/32 -1

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Optical Coherence Tomography - Right - 20/32 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/32 -1

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Infrared Fundus Photograph - Left - 20/32 -1

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Retinitis Pigmentosa RPGR Gly930 del2gaaGG   XL
Disease:
XL Retinitis Pigmentosa
Gene:
RPGR
Allele 1:
Gly930 del2gaaGG
Allele 2:
 
Inheritance:
XL
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