Case
SR2666
Student Mode
AD Choroideremia (IIIA1b)
Male
Male
Hidden
SR2666
Student Mode
AD Choroideremia (IIIA1b)
Male
Male
Visit at age: 65 years
Fundus Photography - Right - 20/200
Exemplar
Fundus Photography - Left - 20/32 -2
Exemplar
Fundus Montage - Right - 20/200
Exemplar
Fundus Montage - Left - 20/32 -2
Exemplar
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
Exemplar
Infrared Fundus Photograph - Left - 20/32 -2
Exemplar
Visit at age: 67 years
Goldmann Visual Field - Right - 20/200 -3
Exemplar
Goldmann Visual Field - Left - 20/32 -2
Exemplar
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
Exemplar
Infrared Fundus Photograph - Left - 20/32 -2
Exemplar
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 |