Case
SR20
Student Mode
North Carolina Macular Dystrophy (IIG)
Female
Female
Hidden
SR20
Student Mode
North Carolina Macular Dystrophy (IIG)
Female
Female
Highlighted Images
| Age at visit: 8 years | OD | OS |
|---|---|
History
This 8 year old girl had macular lesions noted incidentally during a routine eye examination at age 3.
| Refraction OD: | Plano |
|---|---|
| Refraction OS: | Plano |
Pedigree
Teaching Points
The clinical features favoring the diagnosis of North Carolina macular dystrophy include: atrophic macular lesions surrounded by a gliotic rim; visual acuity better than one would expect given the anatomy; and, a similarly affected mother.
| Age at visit: 8 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 9 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 11 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 13 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 14 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 33 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
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