SR269

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Pattern Dystrophy (IIC)

Male

SR269

Pattern Dystrophy (IIC)

Male

Highlighted Images

OD	OS
Age at visit: 33 years
20/30 -2	20/50 -1

History

This 33 year old man first experienced some metamorphopsia in both eyes at age 30.

Pedigree

Age at visit: 32 years

OD		OS
20/30 -2		20/30 -2

OD		OS
20/30 -2 OCT Stack		20/30 -2 OCT Stack

OD		OS
20/30 -2		20/30 -2

Age at visit: 33 years

OD		OS
20/30 -2		20/50 -1

OD		OS
20/30 -2 OCT Stack		20/50 -1 OCT Stack

OD		OS
20/30 -2		20/50 -1

Age at visit: 35 years

OD		OS
20/30 OCT Stack		20/60 +2 OCT Stack

OD		OS
20/30		20/60 +2

Age at visit: 42 years

OD		OS
20/40 -2		20/50 -2

OD		OS
20/40 -2		20/50 -2

OD		OS
20/40 -2		20/50 -2

OD		OS
20/40 -2 OCT Stack		20/50 -2 OCT Stack

OD		OS
20/40 -2		20/50 -2

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
Pattern Dystrophy	IMPG2	Ser804 del2aGT		AD

Disease:

Pattern Dystrophy

Gene:

IMPG2

Allele 1:

Ser804 del2aGT

Allele 2:

Inheritance:

Cite this case

Case

SR269

Student Mode

Pattern Dystrophy (IIC)

Male

Male

Hidden

SR269

Student Mode

Pattern Dystrophy (IIC)

Male

Male

Highlighted Images

History

Pedigree

Diagnosis & molecular findings

Case

SR269

Student Mode

Pattern Dystrophy (IIC)

Male

Male

Hidden

SR269

Student Mode

Pattern Dystrophy (IIC)

Male

Male

Highlighted Images

History Collapse

Pedigree Collapse

Diagnosis & molecular findings

History

Pedigree