StoneRounds Disease Atlas SR86
SR:
Search
Not logged in
Log in Register Terms of Use
Join Teaching Session
Log in Register Terms of Use
Join Teaching Session Search
StoneRounds Disease Atlas SR86

Case

SR86

Grid View Download View

Student Mode

AD CSNB (IA2fii)

Female

Female

Hidden

SR86

Grid View Download View

Student Mode

AD CSNB (IA2fii)

Female

Female

Highlighted Images

Age at visit: 44 years
OD OS
20/16 -1
20/20

Pedigree

Age at visit: 44 years
ODOS
20/16 -1
20/20
ODOS
20/16 -1
20/20
ODOS
20/16 -1
20/20
ODOS
20/16 -1 OCT Stack
20/20 OCT Stack
ODOS
20/16 -1
20/20

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD CSNB PDE6B His258Asn CAC>AAC   AD
Disease:
AD CSNB
Gene:
PDE6B
Allele 1:
His258Asn CAC>AAC
Allele 2:
 
Inheritance:
AD
Cite this case
Search Diagnostic Tree

Diagnostic Tree

False Genotype Rate:

Gene Count:

Submit Final Diagnosis

You're volunteering to be called on to describe a case.

Leaderboard

User Score