SR86

AD CSNB (IA2fii)

Female

Female

SR86

AD CSNB (IA2fii)

Female

Female

Highlighted Images

Age at visit: 44 years
OD OS

History

This 44 year old woman has had very poor vision in dim light for her entire life. She vividly remembers running into a picnic table on a bicycle in a campground as a child.

Pedigree

Age at visit: 44 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD CSNB PDE6B His258Asn CAC>AAC   AD
Disease:
Gene:
Allele 1:
His258Asn CAC>AAC
Allele 2:
 
Inheritance:
AD
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