SR488

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XL Retinitis Pigmentosa (IA1ai)

Male

SR488

XL Retinitis Pigmentosa (IA1ai)

Male

Highlighted Images

OD	OS
Age at visit: 6 years
10/25 +1	10/20

Pedigree

Age at visit: 6 years

OD		OS
10/25 +1		10/20

OD		OS
10/25 +1		10/20

OD		OS
10/25 +1 OCT Stack		10/20 OCT Stack

OD		OS
10/25 +1		10/20

Age at visit: 8 years

OD		OS
20/50		20/50

OD		OS
20/50 OCT Stack		20/50 OCT Stack

OD		OS
20/50		20/50

Age at visit: 9 years

OD		OS
20/50		20/50

OD		OS
20/50 OCT Stack		20/50 OCT Stack

OD		OS
20/50		20/50

Age at visit: 10 years

OD		OS
20/63 +2		20/50 -2

OD		OS
20/63 +2		20/50 -2

OD		OS
20/63 +2 OCT Stack		20/50 -2 OCT Stack

OD		OS
20/63 +2		20/50 -2

Age at visit: 13 years

OD		OS
20/50 -1		20/50 -1

OD		OS
20/50 -1		20/50 -1

OD		OS
20/50 -1		20/50 -1

OD		OS
20/50 -1 OCT Stack		20/50 -1 OCT Stack

OD		OS
20/50 -1		20/50 -1

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
XL Retinitis Pigmentosa	RPGR	Met58Lys ATG>AAG		XL

Disease:

XL Retinitis Pigmentosa

Gene:

RPGR

Allele 1:

Met58Lys ATG>AAG

Allele 2:

Inheritance:

XL

Cite this case

Case

SR488

Student Mode

XL Retinitis Pigmentosa (IA1ai)

Male

Male

Hidden

SR488

Student Mode

XL Retinitis Pigmentosa (IA1ai)

Male

Male

Highlighted Images

Pedigree

Diagnosis & molecular findings

Case

SR488

Student Mode

XL Retinitis Pigmentosa (IA1ai)

Male

Male

Hidden

SR488

Student Mode

XL Retinitis Pigmentosa (IA1ai)

Male

Male

Highlighted Images

Pedigree Collapse

Diagnosis & molecular findings

Pedigree