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StoneRounds Disease Atlas SR2634

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SR2634

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AD Retinitis Pigmentosa (IA1aii)

Female

Female

SR2634

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AD Retinitis Pigmentosa (IA1aii)

Female

Female

Visit at age: 59 years

Fundus Photography - Right - 20/40 -1

Exemplar

Fundus Photography - Left - 10/120 -1

Exemplar

Goldmann Visual Field - Right - 20/40 -1

Exemplar

Goldmann Visual Field - Left - 10/120 -1

Exemplar

Optical Coherence Tomography - Right - 20/40 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 10/120 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 -1

Exemplar

Infrared Fundus Photograph - Left - 10/120 -1

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Blue Autofluorescence - Right - 20/40 -1

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Blue Autofluorescence - Left - 10/120 -1

Exemplar

Visit at age: 60 years

Goldmann Visual Field - Right - 20/40 -1

Exemplar

Goldmann Visual Field - Left - 10/140

Exemplar

Optical Coherence Tomography - Right - 20/40 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 10/140

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 -1

Exemplar

Infrared Fundus Photograph - Left - 10/140

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Retinitis Pigmentosa RHO Glu181Lys GAG>AAG   AD
Disease:
AD Retinitis Pigmentosa
Gene:
RHO
Allele 1:
Glu181Lys GAG>AAG
Allele 2:
 
Inheritance:
AD
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