SR2018
North Carolina Macular Dystrophy (IIG)
Male
Male
SR2018
North Carolina Macular Dystrophy (IIG)
Male
Male
History
This 57 year old man has had slightly reduced visual acuity for the past 3 years. He has insulin dependent diabetes mellitus for 10 years.
Pedigree
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