Log in Register Terms of Use
Join Teaching Session Search
StoneRounds Disease Atlas SR1587

SR1587

Grid View Download View

AD Stargardt Disease (IIF)

Female

Female

SR1587

Grid View Download View

AD Stargardt Disease (IIF)

Female

Female

Highlighted Images

Age at visit: 39 years
OD OS
20/100
20/80 -1

History

This 39 year old woman first had difficulty reading at age 23.

Pedigree

Age at visit: 39 years
Age at visit: 40 years
Age at visit: 41 years
Age at visit: 44 years
Age at visit: 45 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Stargardt Disease ELOVL4 Leu263 del5tttCTTAA   AD
Disease:
AD Stargardt Disease
Gene:
ELOVL4
Allele 1:
Leu263 del5tttCTTAA
Allele 2:
 
Inheritance:
AD
Cite this case