SR403 | StoneRounds

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SR403

XL Retinitis Pigmentosa (IA1ai)

Male

Male

SR403

XL Retinitis Pigmentosa (IA1ai)

Male

Male

Highlighted Images

OD	OS
Age at visit: 66 years
Light Perception	Light Perception

Pedigree

Age at visit: 66 years

OD		OS
Light Perception		Light Perception

OD		OS
Light Perception		Light Perception

OD		OS
Light Perception OCT Stack		Light Perception OCT Stack

OD		OS
Light Perception		Light Perception

Age at visit: 69 years

OD		OS
Light Perception OCT Stack		Light Perception OCT Stack

OD		OS
Light Perception		Light Perception

Age at visit: 71 years

OD		OS
Light Perception OCT Stack		Light Perception OCT Stack

OD		OS
Light Perception		Light Perception

Age at visit: 73 years

OD		OS
Light Perception OCT Stack		Light Perception OCT Stack

OD		OS
Light Perception		Light Perception

Age at visit: 74 years

OD		OS
Light Perception		Light Perception

OD		OS
Light Perception OCT Stack		Light Perception OCT Stack

OD		OS
Light Perception		Light Perception

Age at visit: 76 years

OD		OS
Light Perception OCT Stack		Light Perception OCT Stack

OD		OS
Light Perception		Light Perception

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
XL Retinitis Pigmentosa	RPGR	Glu726Stop GAG>TAG		XL

Disease:

XL Retinitis Pigmentosa

Gene:

Allele 1:

Glu726Stop GAG>TAG

Allele 2:

Inheritance:

XL

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