StoneRounds
Volunteer
Un-volunteer
Open Diagnosis Box
Leaderboard
StoneRounds
Disease Atlas
SR331
SR:
Volunteer
Un-volunteer
Open Diagnosis Box
Leaderboard
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
SR331
JavaScript is disabled.
Without JavaScript enabled, this site will not function properly.
Please follow
these instructions
in order to enable JavaScript in your browser.
Case
SR331
Change Format
Grid View
Download View
Student Mode
Congenital Stationary Cone Dysfunction (IA2d)
Female
Female
Hidden
SR331
Change Format
Grid View
Download View
Student Mode
Congenital Stationary Cone Dysfunction (IA2d)
Female
Female
Highlighted Images
Age at visit:
42 years
OD
OS
20/300
20/250
Pedigree
Collapse
Expand Pedigree
Expand Visits
Age at visit:
42 years
OD
OS
20/300
20/250
Show more
OD
OS
20/300
20/250
OD
OS
20/300
OCT Stack
20/250
OCT Stack
Show more
OD
OS
20/300
20/250
Show more
Diagnosis & molecular findings
Disease
Gene
Allele 1 variant(s)
Allele 2 variant(s)
Inheritance mode
Congenital Stationary Cone Dysfunction
KCNV2
Glu148Stop GAA>TAA
Glu148Stop GAA>TAA
AR
Disease:
Congenital Stationary Cone Dysfunction
Gene:
KCNV2
Allele 1:
Glu148Stop GAA>TAA
Allele 2:
Glu148Stop GAA>TAA
Inheritance:
AR
Cite this case
Search Diagnostic Tree
Diagnostic Tree
False Genotype Rate:
Gene Count:
Submit Final Diagnosis
Clear Diagnosis
You're volunteering to be called on to describe a case.
How would you like to be addressed?
Please give a short description of where you are from (institution/city).
Volunteer
×
Leaderboard
User
Score