Ontology highlight
ABSTRACT:
SUBMITTER: Song H
PROVIDER: S-EPMC4600048 | biostudies-literature | 2015 Oct
REPOSITORIES: biostudies-literature
Song Hongxin H Rossi Ethan A EA Latchney Lisa L Bessette Angela A Stone Edwin E Hunter Jennifer J JJ Williams David R DR Chung Mina M
JAMA ophthalmology 20151001 10
<h4>Importance</h4>Stargardt disease (STGD1) is characterized by macular atrophy and flecks in the retinal pigment epithelium. The causative ABCA4 gene encodes a protein localizing to photoreceptor outer segments. The pathologic steps by which ABCA4 mutations lead to clinically detectable retinal pigment epithelium changes remain unclear. We investigated early STGD1 using adaptive optics scanning light ophthalmoscopy.<h4>Observations</h4>Adaptive optics scanning light ophthalmoscopy imaging of 2 ...[more]