SR1125

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XL Retinitis Pigmentosa (IA1ai)

Female

SR1125

XL Retinitis Pigmentosa (IA1ai)

Female

Highlighted Images

OD	OS
Age at visit: 23 years
20/20	20/20 -1

History

This 23 year old asymptomatic woman had fundus abnormalities noticed incidentally on a recent dilated eye exam.

Pedigree

Age at visit: 23 years

OD		OS
20/20		20/20 -1

OD		OS
20/20		20/20 -1

OD		OS
20/20		20/20 -1

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

OD		OS
20/20		20/20 -1

OD		OS
20/20		20/20 -1

Age at visit: 25 years

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

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

OD		OS
20/20 -2 OCT Stack		20/20 -1 OCT Stack

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

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

Age at visit: 28 years

OD		OS
20/20 -2		20/20

OD		OS
20/20 -2 OCT Stack		20/20 OCT Stack

OD		OS
20/20 -2		20/20

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
XL Retinitis Pigmentosa	RPGR	Glu1031 del1gA		XL

Disease:

XL Retinitis Pigmentosa

Gene:

RPGR

Allele 1:

Glu1031 del1gA

Allele 2:

Inheritance:

Cite this case

Case

SR1125

Student Mode

XL Retinitis Pigmentosa (IA1ai)

Female

Female

Hidden

SR1125

Student Mode

XL Retinitis Pigmentosa (IA1ai)

Female

Female

Highlighted Images

History

Pedigree

Diagnosis & molecular findings

Case

SR1125

Student Mode

XL Retinitis Pigmentosa (IA1ai)

Female

Female

Hidden

SR1125

Student Mode

XL Retinitis Pigmentosa (IA1ai)

Female

Female

Highlighted Images

History Collapse

Pedigree Collapse

Diagnosis & molecular findings

History

Pedigree