SR2634

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AD Retinitis Pigmentosa (IA1aii)

Female

SR2634

AD Retinitis Pigmentosa (IA1aii)

Female

Highlighted Images

OD	OS
Age at visit: 59 years
20/40 -1	10/120 -1

History

This 59 year old woman has been night blind for as long as she can remember. She first noted constricted visual fields in her late 30s.

Pedigree

Age at visit: 59 years

OD		OS
20/40 -1		10/120 -1

OD		OS
20/40 -1		10/120 -1

OD		OS
20/40 -1 OCT Stack		10/120 -1 OCT Stack

OD		OS
20/40 -1		10/120 -1

OD		OS
20/40 -1		10/120 -1

Age at visit: 60 years

OD		OS
20/40 -1		10/140

OD		OS
20/40 -1 OCT Stack		10/140 OCT Stack

OD		OS
20/40 -1		10/140

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
AD Retinitis Pigmentosa	RHO	Glu181Lys GAG>AAG		AD

Disease:

AD Retinitis Pigmentosa

Gene:

RHO

Allele 1:

Glu181Lys GAG>AAG

Allele 2:

Inheritance:

Cite this case

Case

SR2634

Student Mode

AD Retinitis Pigmentosa (IA1aii)

Female

Female

Hidden

SR2634

Student Mode

AD Retinitis Pigmentosa (IA1aii)

Female

Female

Highlighted Images

History

Pedigree

Diagnosis & molecular findings

Case

SR2634

Student Mode

AD Retinitis Pigmentosa (IA1aii)

Female

Female

Hidden

SR2634

Student Mode

AD Retinitis Pigmentosa (IA1aii)

Female

Female

Highlighted Images

History Collapse

Pedigree Collapse

Diagnosis & molecular findings

History

Pedigree