SR88

SECORD (IA2b)

Female

Female

SR88

SECORD (IA2b)

Female

Female

Highlighted Images

Age at visit: 16 years
OD OS

History

This 16 year old female has had poor visual acuity and poor vision in dim light for most of her life. She has normal hearing and no cognitive difficulties.

Pedigree

Age at visit: 16 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
SECORD RPE65 IVS1+5 G>A Arg124Stop CGA>TGA AR
Disease:
Gene:
Allele 1:
IVS1+5 G>A
Allele 2:
Arg124Stop CGA>TGA
Inheritance:
AR
Cite this case