StoneRounds
Volunteer
Un-volunteer
Open Diagnosis Box
Leaderboard
StoneRounds
Disease Atlas
SR2591
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
SR2591
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
SR2591
Change Format
Grid View
Download View
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR2591
Change Format
Grid View
Download View
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Highlighted Images
Age at visit:
62 years
OD
OS
10/600 sc
10/600 sc
Pedigree
Collapse
Expand Pedigree
Expand Visits
Age at visit:
62 years
OD
OS
10/600 sc
10/600 sc
Show more
OD
OS
10/600 sc
10/600 sc
OD
OS
10/600 sc
OCT Stack
10/600 sc
OCT Stack
Show more
OD
OS
10/600 sc
10/600 sc
Show more
Diagnosis & molecular findings
Disease
Gene
Allele 1 variant(s)
Allele 2 variant(s)
Inheritance mode
AR Stargardt Disease
ABCA4
Trp431Stop TGG>TGA
Thr1526Met ACG>ATG
AR
Disease:
AR Stargardt Disease
Gene:
ABCA4
Allele 1:
Trp431Stop TGG>TGA
Allele 2:
Thr1526Met ACG>ATG
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