SR2843

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Best Disease (IIB)

Male

SR2843

Best Disease (IIB)

Male

Highlighted Images

OD	OS
Age at visit: 6 years
20/20 -2	20/20 -2

History

This 6 year old boy has no visual complaints.

Pedigree

Age at visit: 5 years

OD		OS
20/20 -2 sc		20/20 -3 sc

Age at visit: 6 years

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

Age at visit: 14 years

OD		OS
20/20 -1 sc*		20/20 sc*

*Acuities for this visit are inferred from other visits in this case.

Age at visit: 16 years

OD		OS
20/15		20/15 -1

Age at visit: 24 years

OD		OS
20/15 -2		20/15 -1

Age at visit: 28 years

OD		OS
20/20		20/15

OD		OS
20/20		20/15

OD		OS
20/20 OCT Stack		20/15 OCT Stack

OD		OS
20/20		20/15

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
Best Disease	BEST1	Gly222Val GGA>GTA		AD

Disease:

Best Disease

Gene:

BEST1

Allele 1:

Gly222Val GGA>GTA

Allele 2:

Inheritance:

Cite this case

SR2843

Best Disease (IIB)

Male

Male

SR2843

Best Disease (IIB)

Male

Male

Highlighted Images

History Collapse

Pedigree Collapse

Diagnosis & molecular findings

History

Pedigree