Case
SR20
Student Mode
North Carolina Macular Dystrophy (IIG)
Female
Female
Hidden
SR20
Student Mode
North Carolina Macular Dystrophy (IIG)
Female
Female
Visit at age: 5 years
Fundus Photography - Right - 20/60 sc
Exemplar
Fundus Photography - Left - 20/50 sc
Exemplar
Visit at age: 6 years
Fundus Photography - Right - 20/50 sc
Exemplar
Fluorescein Angiography - Right - 20/50 sc
Exemplar
Fluorescein Angiography - Left - 20/50 sc
Exemplar
Visit at age: 8 years
Fundus Photography - Right - 20/50 sc
Exemplar
Fundus Photography - Left - 20/50 -1 sc
Exemplar
Visit at age: 9 years
Fundus Photography - Right - 20/40 sc
Exemplar
Fundus Photography - Left - 20/70 +1 sc
Exemplar
Visit at age: 11 years
Fundus Photography - Right - 20/50 -2 sc
Exemplar
Fundus Photography - Left - 20/50 -2 sc
Exemplar
Visit at age: 13 years
Fundus Photography - Right - 20/40 -1 sc
Exemplar
Fundus Photography - Left - 20/50 +2 sc
Exemplar
Visit at age: 14 years
Fundus Photography - Right - 20/60 sc
Exemplar
Fundus Photography - Left - 20/50 -1 sc
Exemplar
Visit at age: 33 years
Fundus Photography - Right - 20/60 -1 sc
Exemplar
Fundus Photography - Left - 20/70 -1 sc
Exemplar
Optical Coherence Tomography - Right - 20/60 -1 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/70 -1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/60 -1 sc
Exemplar
Infrared Fundus Photograph - Left - 20/70 -1 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 - chr6:100040906 G>T | AD |
Disease:
Gene:
Allele 1:
HG19 - chr6:100040906 G>T
Allele 2:
Inheritance:
AD