SR353

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Pattern Dystrophy (IIC)

Female

SR353

Pattern Dystrophy (IIC)

Female

Highlighted Images

OD	OS
Age at visit: 44 years
20/20 sc	20/20 sc

History

This 44 year old woman first noticed difficulties reading excel sheets approximately one year ago. She feels the vision in her left eye is worse than her right.

Pedigree

Age at visit: 44 years

OD		OS
20/20 sc		20/20 sc

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

OD		OS
20/20 sc		20/20 sc

OD		OS
20/20 sc		20/20 sc

Age at visit: 44 years (Visit 2)

OD		OS
20/20 -2		20/20 -2

OD		OS
20/20 -2		20/20 -2

OD		OS
20/20 -2 OCT Stack		20/20 -2 OCT Stack

OD		OS
20/20 -2		20/20 -2

Age at visit: 54 years

OD		OS
20/20		10/120 sc

OD		OS
20/20		10/120 sc

OD		OS
20/20		10/120 sc

OD		OS
20/20 OCT Stack		10/120 sc OCT Stack

OD		OS
20/20		10/120 sc

OD		OS
20/20		10/120 sc

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
Pattern Dystrophy	PRPH2	Arg172Gln CGG>CAG		AD

Disease:

Pattern Dystrophy

Gene:

PRPH2

Allele 1:

Arg172Gln CGG>CAG

Allele 2:

Inheritance:

Cite this case

Case

SR353

Student Mode

Pattern Dystrophy (IIC)

Female

Female

Hidden

SR353

Student Mode

Pattern Dystrophy (IIC)

Female

Female

Highlighted Images

History

Pedigree

Diagnosis & molecular findings

Case

SR353

Student Mode

Pattern Dystrophy (IIC)

Female

Female

Hidden

SR353

Student Mode

Pattern Dystrophy (IIC)

Female

Female

Highlighted Images

History Collapse

Pedigree Collapse

Diagnosis & molecular findings

History

Pedigree