Case
SR1766
Student Mode
Pattern Dystrophy (IIC)
Male
Male
Hidden
SR1766
Student Mode
Pattern Dystrophy (IIC)
Male
Male
History
This 47 year old man was asymptomatic when he had "drusen" noticed on a routine exam at age 30. There is some history of adult onset macular disease in his father's family.
Pedigree
| Age at visit: 47 years |
| Age at visit: 48 years |
| Age at visit: 49 years |
| Age at visit: 50 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Pattern Dystrophy | PRPH2 | Cys213Tyr TGC>TAC | AD |