Case
SR955
Student Mode
Occult Macular Dystrophy (IIE)
Male
Male
Hidden
SR955
Student Mode
Occult Macular Dystrophy (IIE)
Male
Male
Highlighted Images
| Age at visit: 56 years | OD | OS |
|---|---|
Pedigree
| Age at visit: 52 years |
| Age at visit: 56 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 60 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Occult Macular Dystrophy | RP1L1 | Arg45Trp CGG>TGG | AD |