Case
SR879
Student Mode
Occult Macular Dystrophy (IIE)
Male
Male
Hidden
SR879
Student Mode
Occult Macular Dystrophy (IIE)
Male
Male
Highlighted Images
| Age at visit: 36 years | |
| OD | OS |
|---|---|
History
This 36 year old man had normal vision until age 25, at which time he noticed a decreased acuity in his left eye. As time passed, he developed similar symptoms in the right eye. The patient has a male cousin on his maternal side who had a decreased vision in infancy.
Pedigree
| Age at visit: 36 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 37 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 37 years (Visit 2) |
| 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 |