SR539

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AD Retinitis Pigmentosa (IA1aii)

Female

SR539

AD Retinitis Pigmentosa (IA1aii)

Female

Highlighted Images

OD	OS
Age at visit: 36 years
20/50 -2	20/50 -2

Pedigree

Age at visit: 36 years

OD		OS
20/50 -2		20/50 -2

OD		OS
20/50 -2		20/50 -2

OD		OS
20/50 -2		20/50 -2

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

OD		OS
20/50 -2		20/50 -2

Age at visit: 37 years

OD		OS
20/50 +1		20/50 +2

OD		OS
20/50 +1 OCT Stack		20/50 +2 OCT Stack

OD		OS
20/50 +1		20/50 +2

Age at visit: 38 years

OD		OS
20/50		20/50 -1

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

OD		OS
20/50		20/50 -1

Age at visit: 39 years

OD		OS
20/50		20/50 +1

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

OD		OS
20/50		20/50 +1

Age at visit: 41 years

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

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

Age at visit: 43 years

OD		OS
20/50		20/50

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

OD		OS
20/50		20/50

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
AD Retinitis Pigmentosa	PRPF31	IVS10+1 G>A		AD

Disease:

AD Retinitis Pigmentosa

Gene:

PRPF31

Allele 1:

IVS10+1 G>A

Allele 2:

Inheritance:

AD

Cite this case

Case

SR539

Student Mode

AD Retinitis Pigmentosa (IA1aii)

Female

Female

Hidden

SR539

Student Mode

AD Retinitis Pigmentosa (IA1aii)

Female

Female

Highlighted Images

Pedigree

Diagnosis & molecular findings

Case

SR539

Student Mode

AD Retinitis Pigmentosa (IA1aii)

Female

Female

Hidden

SR539

Student Mode

AD Retinitis Pigmentosa (IA1aii)

Female

Female

Highlighted Images

Pedigree Collapse

Diagnosis & molecular findings

Pedigree