Case
SR614
Student Mode
North Carolina Macular Dystrophy (IIG)
Male
Male
Hidden
SR614
Student Mode
North Carolina Macular Dystrophy (IIG)
Male
Male
Highlighted Images
| Age at visit: 12 years | OD | OS |
|---|---|
History
This 13 year old male had reduced vision in his left eye discovered incidentally at about age 10.
Pedigree
| Age at visit: 12 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 34 years |
| Age at visit: 42 years |
| Age at visit: 44 years |
| Age at visit: 45 years |
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