Log in Register Terms of Use
Join Teaching Session Search
StoneRounds Disease Atlas SR54

SR54

Grid View Download View

SECORD (IA2b)

Female

Female

SR54

Grid View Download View

SECORD (IA2b)

Female

Female

Highlighted Images

Age at visit: 57 years
OD OS
20/250 sc
20/250 sc

History

This 57 year old woman has had nystagmus and reduced acuity her entire life.

Pedigree

Age at visit: 57 years
Age at visit: 59 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
SECORD NMNAT1 Glu257Lys GAG>AAG Arg207Trp CGG>TGG AR
Disease:
SECORD
Gene:
NMNAT1
Allele 1:
Glu257Lys GAG>AAG
Allele 2:
Arg207Trp CGG>TGG
Inheritance:
AR
Cite this case