SR193

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XL Choroideremia (IIIA1a)

Female

SR193

XL Choroideremia (IIIA1a)

Female

Highlighted Images

OD	OS
Age at visit: 10 years
20/25 +1	20/20 -1

History

Fundus abnormalities were seen in this 10 year old girl during a routine eye examination.

Pedigree

Age at visit: 10 years

OD		OS
20/25 +1		20/20 -1

OD		OS
20/25 +1		20/20 -1

OD		OS
20/25 +1		20/20 -1

Age at visit: 15 years

OD		OS
20/25 +1		20/20 -2

OD		OS
20/25 +1		20/20 -2

OD		OS
20/25 +1		20/20 -2

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
XL Choroideremia	CHM	Duplication Exons 6-8		XL

Disease:

XL Choroideremia

Gene:

CHM

Allele 1:

Duplication Exons 6-8

Allele 2:

Inheritance:

Cite this case

Case

SR193

Student Mode

XL Choroideremia (IIIA1a)

Female

Female

Hidden

SR193

Student Mode

XL Choroideremia (IIIA1a)

Female

Female

Highlighted Images

History

Pedigree

Diagnosis & molecular findings

Case

SR193

Student Mode

XL Choroideremia (IIIA1a)

Female

Female

Hidden

SR193

Student Mode

XL Choroideremia (IIIA1a)

Female

Female

Highlighted Images

History Collapse

Pedigree Collapse

Diagnosis & molecular findings

History

Pedigree