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StoneRounds Disease Atlas SR816

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SR816

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AR Retinitis Pigmentosa (IA1aiii)

Female

Female

SR816

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AR Retinitis Pigmentosa (IA1aiii)

Female

Female

Visit at age: 43 years

Fundus Photography - Right - 20/20 +2

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Fundus Photography - Left - 20/20 +2

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Fundus Montage - Right - 20/20 +2

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Fundus Montage - Left - 20/20 +2

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Goldmann Visual Field - Right - 20/20 +2

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Goldmann Visual Field - Left - 20/20 +2

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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

Infrared Fundus Photograph - Right - 20/20 +2

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Infrared Fundus Photograph - Left - 20/20 +2

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Visit at age: 44 years

Goldmann Visual Field - Right - 20/20 -1

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Goldmann Visual Field - Left - 20/20

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Optical Coherence Tomography - Right - 20/20 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 -1

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Infrared Fundus Photograph - Left - 20/20

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Visit at age: 47 years

Goldmann Visual Field - Right - 20/20 +2

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Goldmann Visual Field - Left - 20/20

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Optical Coherence Tomography - Right - 20/20 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 +2

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Infrared Fundus Photograph - Left - 20/20

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Visit at age: 51 years

Goldmann Visual Field - Right - 20/16 -1

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Goldmann Visual Field - Left - 20/16

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Optical Coherence Tomography - Right - 20/16 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/16

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/16 -1

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Infrared Fundus Photograph - Left - 20/16

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AR Retinitis Pigmentosa USH2A Gly2224Cys GGT>TGT / Glu3448Lys GAA>AAA Thr4337Met ACG>ATG AR
Disease:
AR Retinitis Pigmentosa
Gene:
USH2A
Allele 1:
Gly2224Cys GGT>TGT / Glu3448Lys GAA>AAA
Allele 2:
Thr4337Met ACG>ATG
Inheritance:
AR
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