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StoneRounds Disease Atlas SR2666

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SR2666

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AD Choroideremia (IIIA1b)

Male

Male

SR2666

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AD Choroideremia (IIIA1b)

Male

Male

Visit at age: 65 years

Fundus Photography - Right - 20/200

Exemplar

Fundus Photography - Left - 20/32 -2

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Fundus Montage - Right - 20/200

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Fundus Montage - Left - 20/32 -2

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Goldmann Visual Field - Right - 20/200

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Goldmann Visual Field - Left - 20/32 -2

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Optical Coherence Tomography - Right - 20/200

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200

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Infrared Fundus Photograph - Left - 20/32 -2

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Visit at age: 67 years

Goldmann Visual Field - Right - 20/200 -3

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Goldmann Visual Field - Left - 20/32 -2

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Optical Coherence Tomography - Right - 20/200 -3

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/200 -3

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Infrared Fundus Photograph - Left - 20/32 -2

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Choroideremia RPE65 Asp477Gly GAT>GGT   AD
Disease:
AD Choroideremia
Gene:
RPE65
Allele 1:
Asp477Gly GAT>GGT
Allele 2:
 
Inheritance:
AD
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