Case
SR614
Student Mode
North Carolina Macular Dystrophy (IIG)
Male
Male
Hidden
SR614
Student Mode
North Carolina Macular Dystrophy (IIG)
Male
Male
Visit at age: 10 years
Fundus Photography - Right - 20/20 sc
Exemplar
Fundus Photography - Left - 20/500 sc
Exemplar
Goldmann Visual Field - Right - 20/20 sc
Exemplar
Goldmann Visual Field - Left - 20/500 sc
Exemplar
Fluorescein Angiography - Right - 20/20 sc
Exemplar
Fluorescein Angiography - Left - 20/500 sc
Exemplar
Visit at age: 11 years
Fundus Photography - Right - 20/15 sc
Exemplar
Fundus Photography - Left - 20/200 sc
Exemplar
Visit at age: 12 years
Fundus Photography - Right - 20/15 -1 sc
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Fundus Photography - Left - 20/200 sc
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Visit at age: 14 years
Fundus Photography - Right - 20/15 -2
Exemplar
Fundus Photography - Left - 20/300
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Visit at age: 17 years
Fundus Photography - Right - 20/13
Exemplar
Fundus Photography - Left - 20/200
Exemplar
Visit at age: 34 years
Fundus Photography - Right - 20/40
Exemplar
Fundus Photography - Left - 20/180
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Fundus Montage - Right - 20/40
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Fundus Montage - Left - 20/180
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Goldmann Visual Field - Right - 20/40
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Goldmann Visual Field - Left - 20/180
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Optical Coherence Tomography - Right - 20/40
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/180
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/40
Exemplar
Infrared Fundus Photograph - Left - 20/180
Exemplar
Visit at age: 42 years
Fundus Photography - Right - 5/225
Exemplar
Fundus Photography - Left - 20/200 -1
Exemplar
Goldmann Visual Field - Right - 5/225
Exemplar
Goldmann Visual Field - Left - 20/200 -1
Exemplar
Optical Coherence Tomography - Right - 5/225
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/200 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 5/225
Exemplar
Infrared Fundus Photograph - Left - 20/200 -1
Exemplar
Visit at age: 43 years
Goldmann Visual Field - Right - 4/400
Exemplar
Goldmann Visual Field - Left - 10/300
Exemplar
Optical Coherence Tomography - Right - 4/400
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/300
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 4/400
Exemplar
Infrared Fundus Photograph - Left - 10/300
Exemplar
Visit at age: 44 years
Goldmann Visual Field - Right - 3/120 sc
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Goldmann Visual Field - Left - 10/120 sc
Exemplar
Optical Coherence Tomography - Right - 3/120 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/120 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 3/120 sc
Exemplar
Infrared Fundus Photograph - Left - 10/120 sc
Exemplar
Visit at age: 45 years
Fundus Photography - Right - Count Fingers 3'
Exemplar
Fundus Photography - Left - 20/200 +1
Exemplar
Optical Coherence Tomography - Right - Count Fingers 3'
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/200 +1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Count Fingers 3'
Exemplar
Infrared Fundus Photograph - Left - 20/200 +1
Exemplar
Visit at age: 45 years (Visit 2)
Goldmann Visual Field - Right - 10/600 sc
Exemplar
Goldmann Visual Field - Left - 10/100 sc
Exemplar
Optical Coherence Tomography - Right - 10/600 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/100 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/600 sc
Exemplar
Infrared Fundus Photograph - Left - 10/100 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| North Carolina Macular Dystrophy | PRDM13 | HG19 - chr6:100040987G>C | AD |
Disease:
Gene:
Allele 1:
HG19 - chr6:100040987G>C
Allele 2:
Inheritance:
AD