SR54

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SECORD (IA2b)

Female

SR54

SECORD (IA2b)

Female

Highlighted Images

OD	OS
Age at visit: 57 years
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

OD		OS
20/250 sc		20/250 sc

OD		OS
20/250 sc		20/250 sc

OD		OS
20/250 sc OCT Stack		20/250 sc OCT Stack

OD		OS
20/250 sc		20/250 sc

Age at visit: 59 years

OD		OS
20/250 sc		20/250 sc

OD		OS
20/250 sc		20/250 sc

OD		OS
20/250 sc		20/250 sc

OD		OS
20/250 sc OCT Stack		20/250 sc OCT Stack

OD		OS
20/250 sc		20/250 sc

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:

Cite this case

Case

SR54

Student Mode

SECORD (IA2b)

Female

Female

Hidden

SR54

Student Mode

SECORD (IA2b)

Female

Female

Highlighted Images

History

Pedigree

Diagnosis & molecular findings

Case

SR54

Student Mode

SECORD (IA2b)

Female

Female

Hidden

SR54

Student Mode

SECORD (IA2b)

Female

Female

Highlighted Images

History Collapse

Pedigree Collapse

Diagnosis & molecular findings

History

Pedigree