SR51

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XL Choroideremia (IIIA1a)

Male

SR51

XL Choroideremia (IIIA1a)

Male

Highlighted Images

OD	OS
Age at visit: 16 years
20/16	20/16

History

This 16 year old male first noticed difficulty seeing in dim movie theaters when he was young child.

Pedigree

Age at visit: 16 years

OD		OS
20/16		20/16

OD		OS
20/16		20/16

OD		OS
20/16		20/16

OD		OS
20/16 OCT Stack		20/16 OCT Stack

OD		OS
20/16		20/16

Age at visit: 17 years

OD		OS
20/20		20/16

OD		OS
20/20 OCT Stack		20/16 OCT Stack

OD		OS
20/20		20/16

Age at visit: 20 years

OD		OS
20/20		20/20

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

OD		OS
20/20		20/20

Age at visit: 22 years

OD		OS
20/20 -1		20/20

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

OD		OS
20/20 -1		20/20

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
XL Choroideremia	CHM	Phe257 del2gagTT		XL

Disease:

XL Choroideremia

Gene:

CHM

Allele 1:

Phe257 del2gagTT

Allele 2:

Inheritance:

Cite this case

Case

SR51

Student Mode

XL Choroideremia (IIIA1a)

Male

Male

Hidden

SR51

Student Mode

XL Choroideremia (IIIA1a)

Male

Male

Highlighted Images

History

Pedigree

Diagnosis & molecular findings

Case

SR51

Student Mode

XL Choroideremia (IIIA1a)

Male

Male

Hidden

SR51

Student Mode

XL Choroideremia (IIIA1a)

Male

Male

Highlighted Images

History Collapse

Pedigree Collapse

Diagnosis & molecular findings

History

Pedigree