SR2062

Pattern Dystrophy (IIC)

Female

Female

SR2062

Pattern Dystrophy (IIC)

Female

Female

Highlighted Images

Age at visit: 42 years
OD OS

History

This 42 year old asymptomatic woman presents for advice regarding a macular abnormality found on a routine eye exam.

Pedigree

Age at visit: 42 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
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