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StoneRounds Disease Atlas SR166

SR166

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AR Retinitis Pigmentosa (IA1aiii)

Male

Male

SR166

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AR Retinitis Pigmentosa (IA1aiii)

Male

Male

Visit at age: 56 years

Fundus Photography - Right - 20/50 +1

Exemplar

Fundus Photography - Left - 20/25 -1

Exemplar

Fundus Montage - Right - 20/50 +1

Exemplar

Fundus Montage - Left - 20/25 -1

Exemplar

Goldmann Visual Field - Right - 20/50 +1

Exemplar

Goldmann Visual Field - Left - 20/25 -1

Exemplar

Optical Coherence Tomography - Right - 20/50 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50 +1

Exemplar

Infrared Fundus Photograph - Left - 20/25 -1

Exemplar

Visit at age: 59 years

Goldmann Visual Field - Right - 20/40 -2

Exemplar

Goldmann Visual Field - Left - 20/20 -2

Exemplar

Optical Coherence Tomography - Right - 20/40 -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 - 20/40 -2

Exemplar

Infrared Fundus Photograph - Left - 20/20 -2

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Retinitis Pigmentosa DHDDS Lys42Glu AAG>GAG Lys42Glu AAG>GAG AR
Disease:
AR Retinitis Pigmentosa
Gene:
DHDDS
Allele 1:
Lys42Glu AAG>GAG
Allele 2:
Lys42Glu AAG>GAG
Inheritance:
AR
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