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StoneRounds Disease Atlas SR2762

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SR2762

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XL Retinitis Pigmentosa (IA1ai)

Male

Male

SR2762

Ladder View Download View

XL Retinitis Pigmentosa (IA1ai)

Male

Male

Visit at age: 48 years

Fundus Photography - Right - Hand Motion 1'

Exemplar

Fundus Photography - Left - Hand Motion 1'

Exemplar

Optical Coherence Tomography - Right - Hand Motion 1'

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Hand Motion 1'

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Hand Motion 1'

Exemplar

Infrared Fundus Photograph - Left - Hand Motion 1'

Exemplar

Visit at age: 49 years

Fundus Photography - Right - Count Fingers

Exemplar

Fundus Photography - Left - Count Fingers

Exemplar

Fundus Montage - Right - Count Fingers

Exemplar

Fundus Montage - Left - Count Fingers

Exemplar

Optical Coherence Tomography - Right - Count Fingers

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Count Fingers

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Count Fingers

Exemplar

Infrared Fundus Photograph - Left - Count Fingers

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Retinitis Pigmentosa RP2 Trp186Stop TGG>TGA   XL
Disease:
XL Retinitis Pigmentosa
Gene:
RP2
Allele 1:
Trp186Stop TGG>TGA
Allele 2:
 
Inheritance:
XL
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