SR465

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ECORD (IA2c)

Female

SR465

ECORD (IA2c)

Female

Highlighted Images

OD	OS
Age at visit: 24 years
20/50	20/32 +1

History

The parents of this 24 year old woman first noticed that she had poor peripheral vision when she was two years of age. She also had difficulty seeing in dim light.

Pedigree

Age at visit: 24 years

OD		OS
20/50		20/32 +1

OD		OS
20/50		20/32 +1

OD		OS
20/50		20/32 +1

OD		OS
20/50 OCT Stack		20/32 +1 OCT Stack

OD		OS
20/50		20/32 +1

Age at visit: 25 years

OD		OS
20/40 -1 sc		20/32 sc

OD		OS
20/40 -1 sc OCT Stack		20/32 sc OCT Stack

OD		OS
20/40 -1 sc		20/32 sc

Age at visit: 27 years

OD		OS
20/40 sc		20/32 -2 sc

OD		OS
20/40 sc OCT Stack		20/32 -2 sc OCT Stack

OD		OS
20/40 sc		20/32 -2 sc

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
ECORD	IMPDH1	Lys323Arg AAG>AGG		AD

Disease:

ECORD

Gene:

IMPDH1

Allele 1:

Lys323Arg AAG>AGG

Allele 2:

Inheritance:

Cite this case

Case

SR465

Student Mode

ECORD (IA2c)

Female

Female

Hidden

SR465

Student Mode

ECORD (IA2c)

Female

Female

Highlighted Images

History

Pedigree

Diagnosis & molecular findings

Case

SR465

Student Mode

ECORD (IA2c)

Female

Female

Hidden

SR465

Student Mode

ECORD (IA2c)

Female

Female

Highlighted Images

History Collapse

Pedigree Collapse

Diagnosis & molecular findings

History

Pedigree