SR306

SECORD (IA2b)

Female

Female

SR306

SECORD (IA2b)

Female

Female

Highlighted Images

Age at visit: 47 years
OD OS

History

This 47 year old woman has had poor vision since very early childhood. She recalls that her central vision was never normal, however she could see faces, ride a bike and could read in childhood. She has been night blind her entire life.

Pedigree

Age at visit: 47 years
Age at visit: 48 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
SECORD LCA5 Glu606 del2gaAC Glu606 del2gaAC AR
Disease:
Gene:
Allele 1:
Glu606 del2gaAC
Allele 2:
Glu606 del2gaAC
Inheritance:
AR
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