SR649

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XL Choroideremia (IIIA1a)

Male

SR649

XL Choroideremia (IIIA1a)

Male

Highlighted Images

OD	OS
Age at visit: 36 years
20/25 -1	20/30

History

This 36-year-old man began to experience night blindness at age 10.

Pedigree

Age at visit: 10 years

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

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

Age at visit: 16 years

OD		OS
20/25 sc		20/20 -2 sc

Age at visit: 19 years

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

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

Age at visit: 27 years

OD		OS
20/25 +2		20/20 -2

OD		OS
20/25 +2		20/20 -2

OD		OS
20/25 +2		20/20 -2

Age at visit: 36 years

OD		OS
20/25 -1		20/30

OD		OS
20/25 -1		20/30

OD		OS
20/25 -1		20/30

OD		OS
20/25 -1 OCT Stack		20/30 OCT Stack

OD		OS
20/25 -1		20/30

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
XL Choroideremia	CHM	Ser7 del12tcGGAGTTTGATGT		XL

Disease:

XL Choroideremia

Gene:

CHM

Allele 1:

Ser7 del12tcGGAGTTTGATGT

Allele 2:

Inheritance:

Cite this case

Case

SR649

Student Mode

XL Choroideremia (IIIA1a)

Male

Male

Hidden

SR649

Student Mode

XL Choroideremia (IIIA1a)

Male

Male

Highlighted Images

History

Pedigree

Diagnosis & molecular findings

Case

SR649

Student Mode

XL Choroideremia (IIIA1a)

Male

Male

Hidden

SR649

Student Mode

XL Choroideremia (IIIA1a)

Male

Male

Highlighted Images

History Collapse

Pedigree Collapse

Diagnosis & molecular findings

History

Pedigree