SR331

Congenital Stationary Cone Dysfunction (IA2d)

Female

Female

SR331

Congenital Stationary Cone Dysfunction (IA2d)

Female

Female

Highlighted Images

Age at visit: 42 years
OD OS

Age at visit: 42 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Congenital Stationary Cone Dysfunction KCNV2 Glu148Stop GAA>TAA Glu148Stop GAA>TAA AR
Gene:
Allele 1:
Glu148Stop GAA>TAA
Allele 2:
Glu148Stop GAA>TAA
Inheritance:
AR
Cite this case