Case
SR2018
Student Mode
North Carolina Macular Dystrophy (IIG)
Male
Male
Hidden
SR2018
Student Mode
North Carolina Macular Dystrophy (IIG)
Male
Male
Visit at age: 56 years
Fundus Photography - Right - 20/40
Exemplar
Fundus Photography - Left - 20/50 -1
Exemplar
Visit at age: 57 years
Fundus Photography - Right - 20/30 -2
Exemplar
Fundus Photography - Left - 20/40 -2
Exemplar
Optical Coherence Tomography - Right - 20/30 -2
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/40 -2
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/30 -2
Exemplar
Infrared Fundus Photograph - Left - 20/40 -2
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 - chr6:100040906 G>T | AD |
Disease:
Gene:
Allele 1:
HG19 - chr6:100040906 G>T
Allele 2:
Inheritance:
AD