SR51

XL Choroideremia (IIIA1a)

Male

Male

SR51

XL Choroideremia (IIIA1a)

Male

Male

Visit at age: 16 years

Fundus Photography - Right - 20/16

Exemplar

Fundus Photography - Left - 20/16

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Fundus Montage - Right - 20/16

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Fundus Montage - Left - 20/16

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Goldmann Visual Field - Right - 20/16

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Goldmann Visual Field - Left - 20/16

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Optical Coherence Tomography - Right - 20/16

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/16

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/16

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Infrared Fundus Photograph - Left - 20/16

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Visit at age: 17 years

Goldmann Visual Field - Right - 20/20

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Goldmann Visual Field - Left - 20/16

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Optical Coherence Tomography - Right - 20/20

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/16

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20

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Infrared Fundus Photograph - Left - 20/16

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Visit at age: 20 years

Goldmann Visual Field - Right - 20/20

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Goldmann Visual Field - Left - 20/20

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Optical Coherence Tomography - Right - 20/20

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20

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Infrared Fundus Photograph - Left - 20/20

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Visit at age: 22 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
OCT Stack

Optical Coherence Tomography - Left - 20/20

Exemplar / OCT Stack
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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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Choroideremia CHM Phe257 del2gagTT   XL
Disease:
Gene:
Allele 1:
Phe257 del2gagTT
Allele 2:
 
Inheritance:
XL
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