SR1206

JavaScript is disabled.

Without JavaScript enabled, this site will not function properly.
Please follow these instructions in order to enable JavaScript in your browser.

XL Retinitis Pigmentosa (IA1ai)

Female

SR1206

XL Retinitis Pigmentosa (IA1ai)

Female

Highlighted Images

OD	OS
Age at visit: 41 years
10/180	20/40

Pedigree

Age at visit: 41 years

OD		OS
10/180		20/40

OD		OS
10/180		20/40

OD		OS
10/180		20/40

OD		OS
10/180 OCT Stack		20/40 OCT Stack

OD		OS
10/180		20/40

Age at visit: 42 years

OD		OS
10/300		20/40 +1

OD		OS
10/300 OCT Stack		20/40 +1 OCT Stack

OD		OS
10/300		20/40 +1

Age at visit: 44 years

OD		OS
10/400		20/50

OD		OS
10/400 OCT Stack		20/50 OCT Stack

OD		OS
10/400		20/50

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
XL Retinitis Pigmentosa	RPGR	Val257 del3gTTC		XL

Disease:

XL Retinitis Pigmentosa

Gene:

RPGR

Allele 1:

Val257 del3gTTC

Allele 2:

Inheritance:

Cite this case

Case

SR1206

Student Mode

XL Retinitis Pigmentosa (IA1ai)

Female

Female

Hidden

SR1206

Student Mode

XL Retinitis Pigmentosa (IA1ai)

Female

Female

Highlighted Images

Pedigree

Diagnosis & molecular findings

Case

SR1206

Student Mode

XL Retinitis Pigmentosa (IA1ai)

Female

Female

Hidden

SR1206

Student Mode

XL Retinitis Pigmentosa (IA1ai)

Female

Female

Highlighted Images

Pedigree Collapse

Diagnosis & molecular findings

Pedigree