SR45

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XL Retinitis Pigmentosa (IA1ai)

Male

SR45

XL Retinitis Pigmentosa (IA1ai)

Male

Highlighted Images

OD	OS
Age at visit: 8 years
20/25 -1	20/25 -1

History

This 8 year old myopic boy first had some abnormal pigmentation noticed in his retina at age 5. He denies nyctalopia and has no visual complaints.

Pedigree

Age at visit: 5 years

OD		OS
20/32		20/32

Age at visit: 8 years

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

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

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

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

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

Age at visit: 10 years

OD		OS
20/32		20/32 -1

OD		OS
20/32 OCT Stack		20/32 -1 OCT Stack

OD		OS
20/32		20/32 -1

Age at visit: 14 years

OD		OS
20/25		20/25 -1

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

OD		OS
20/25		20/25 -1

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
XL Retinitis Pigmentosa	RPGR	Gly939 del1gaaG		XL

Disease:

XL Retinitis Pigmentosa

Gene:

RPGR

Allele 1:

Gly939 del1gaaG

Allele 2:

Inheritance:

Cite this case

Case

SR45

Student Mode

XL Retinitis Pigmentosa (IA1ai)

Male

Male

Hidden

SR45

Student Mode

XL Retinitis Pigmentosa (IA1ai)

Male

Male

Highlighted Images

History

Pedigree

Diagnosis & molecular findings

Case

SR45

Student Mode

XL Retinitis Pigmentosa (IA1ai)

Male

Male

Hidden

SR45

Student Mode

XL Retinitis Pigmentosa (IA1ai)

Male

Male

Highlighted Images

History Collapse

Pedigree Collapse

Diagnosis & molecular findings

History

Pedigree