SR2345

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Pattern Dystrophy (IIC)

Male

SR2345

Pattern Dystrophy (IIC)

Male

Highlighted Images

OD	OS
Age at visit: 60 years
20/20 -2	20/40 +1

History

This 59 year old man first noticed a slight bend in the vision of his left eye at age 52.

Pedigree

Age at visit: 51 years

OD		OS
20/20 +2		20/20 -1

Age at visit: 60 years

OD		OS
20/20 -2		20/40 +1

OD		OS
20/20 -2		20/40 +1

OD		OS
20/20 -2 OCT Stack		20/40 +1 OCT Stack

OD		OS
20/20 -2		20/40 +1

Age at visit: 61 years

OD		OS
20/20 OCT Stack		20/40 +1 OCT Stack

OD		OS
20/20		20/40 +1

Age at visit: 63 years

OD		OS
20/25 OCT Stack		20/40 -1 OCT Stack

OD		OS
20/25		20/40 -1

OD		OS
20/25		20/40 -1

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
Pattern Dystrophy	PRPH2	Tyr141Cys TAC>TGC		AD

Disease:

Pattern Dystrophy

Gene:

PRPH2

Allele 1:

Tyr141Cys TAC>TGC

Allele 2:

Inheritance:

Cite this case

Case

SR2345

Student Mode

Pattern Dystrophy (IIC)

Male

Male

Hidden

SR2345

Student Mode

Pattern Dystrophy (IIC)

Male

Male

Highlighted Images

History

Pedigree

Diagnosis & molecular findings

Case

SR2345

Student Mode

Pattern Dystrophy (IIC)

Male

Male

Hidden

SR2345

Student Mode

Pattern Dystrophy (IIC)

Male

Male

Highlighted Images

History Collapse

Pedigree Collapse

Diagnosis & molecular findings

History

Pedigree