SR2736

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Best Disease (IIB)

Male

SR2736

Best Disease (IIB)

Male

Highlighted Images

OD	OS
Age at visit: 49 years
20/25	20/20

History

This 49 year old man first experienced some mild metamorphopsia at age 35.

Pedigree

Age at visit: 49 years

OD		OS
20/25		20/20

OD		OS
20/25		20/20

OD		OS
20/25		20/20

OD		OS
20/25 OCT Stack		20/20 OCT Stack

OD		OS
20/25		20/20

OD		OS
20/25		20/20

Age at visit: 51 years

OD		OS
20/20 OCT Stack		20/25 +2 OCT Stack

OD		OS
20/20		20/25 +2

Age at visit: 52 years

OD		OS
20/20 OCT Stack		20/25 +2 OCT Stack

OD		OS
20/20		20/25 +2

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
Best Disease	BEST1	Ala243Val GCG>GTG		AD

Disease:

Best Disease

Gene:

BEST1

Allele 1:

Ala243Val GCG>GTG

Allele 2:

Inheritance:

Cite this case

Case

SR2736

Student Mode

Best Disease (IIB)

Male

Male

Hidden

SR2736

Student Mode

Best Disease (IIB)

Male

Male

Highlighted Images

History

Pedigree

Diagnosis & molecular findings

Case

SR2736

Student Mode

Best Disease (IIB)

Male

Male

Hidden

SR2736

Student Mode

Best Disease (IIB)

Male

Male

Highlighted Images

History Collapse

Pedigree Collapse

Diagnosis & molecular findings

History

Pedigree