SR585

Pattern Dystrophy (IIC)

Male

Male

SR585

Pattern Dystrophy (IIC)

Male

Male

Highlighted Images

Age at visit: 64 years
OD OS

History

This 65 year old man first had difficulty with the vision of his right eye in his late 30's. He noticed that fences and telephone poles were wavy. in his mid 50's he noticed a similar distortion in his left eye.

Pedigree

Age at visit: 30 years
Age at visit: 63 years
Age at visit: 63 years (Visit 2)
Age at visit: 64 years
Age at visit: 65 years
Age at visit: 67 years
Age at visit: 70 years
ODOS
5/200 sc Stereo Image
Age at visit: 71 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Pattern Dystrophy PRPH2 Tyr141Cys TAC>TGC   AD
Gene:
Allele 1:
Tyr141Cys TAC>TGC
Allele 2:
 
Inheritance:
AD
Cite this case