SR1766

Pattern Dystrophy (IIC)

Male

Male

SR1766

Pattern Dystrophy (IIC)

Male

Male

Highlighted Images

Age at visit: 47 years
OD OS

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
Age at visit: 51 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Pattern Dystrophy PRPH2 Cys213Tyr TGC>TAC   AD
Gene:
Allele 1:
Cys213Tyr TGC>TAC
Allele 2:
 
Inheritance:
AD
Cite this case