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Cone and rod loss in Stargardt disease revealed by adaptive optics scanning light ophthalmoscopy.


ABSTRACT: 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.Adaptive optics scanning light ophthalmoscopy imaging of 2 brothers with early STGD1 and their unaffected parents was compared with conventional imaging. Cone and rod spacing were increased in both patients (P?

SUBMITTER: Song H 

PROVIDER: S-EPMC4600048 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature

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Cone and rod loss in Stargardt disease revealed by adaptive optics scanning light ophthalmoscopy.

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]

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