SR353

Pattern Dystrophy (IIC)

Female

Female

SR353

Pattern Dystrophy (IIC)

Female

Female

Highlighted Images

Age at visit: 44 years
OD OS

History

This 44 year old woman first noticed difficulties reading excel sheets approximately one year ago. She feels the vision in her left eye is worse than her right.

Pedigree

Age at visit: 44 years
Age at visit: 44 years (Visit 2)
Age at visit: 54 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Pattern Dystrophy PRPH2 Arg172Gln CGG>CAG   AD
Gene:
Allele 1:
Arg172Gln CGG>CAG
Allele 2:
 
Inheritance:
AD
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