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StoneRounds Disease Atlas SR2425

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SR2425

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XL Retinitis Pigmentosa (IA1ai)

Male

Male

SR2425

Ladder View Download View

XL Retinitis Pigmentosa (IA1ai)

Male

Male

Visit at age: 13 years

Fundus Photography - Right - 20/20 -1

Exemplar

Fundus Photography - Left - 20/25 +1

Exemplar

Fundus Montage - Right - 20/20 -1

Exemplar

Fundus Montage - Left - 20/25 +1

Exemplar

Goldmann Visual Field - Right - 20/20 -1

Exemplar

Goldmann Visual Field - Left - 20/25 +1

Exemplar

Optical Coherence Tomography - Right - 20/20 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 -1

Exemplar

Infrared Fundus Photograph - Left - 20/25 +1

Exemplar

Blue Autofluorescence - Right - 20/20 -1

Exemplar

Blue Autofluorescence - Left - 20/25 +1

Exemplar

Visit at age: 14 years

Optical Coherence Tomography - Right - 20/20 -2

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 -2

Exemplar

Infrared Fundus Photograph - Left - 20/20 -2

Exemplar

Visit at age: 15 years

Goldmann Visual Field - Right - 20/32 +2

Exemplar

Goldmann Visual Field - Left - 20/32

Exemplar

Optical Coherence Tomography - Right - 20/32 +2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/32 +2

Exemplar

Infrared Fundus Photograph - Left - 20/32

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Retinitis Pigmentosa RPGR Asn62Lys AAC>AAA   XL
Disease:
XL Retinitis Pigmentosa
Gene:
RPGR
Allele 1:
Asn62Lys AAC>AAA
Allele 2:
 
Inheritance:
XL
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