Outer retinal structure in best vitelliform macular dystrophy. JAMA Ophthalmol 2013 Sep;131(9):1207-15
Date
06/15/2013Pubmed ID
23765342Pubmed Central ID
PMC3968428DOI
10.1001/jamaophthalmol.2013.387Scopus ID
2-s2.0-84878497434 (requires institutional sign-in at Scopus site) 41 CitationsAbstract
IMPORTANCE: Demonstrating the utility of adaptive optics scanning light ophthalmoscopy (AOSLO) to assess outer retinal structure in Best vitelliform macular dystrophy (BVMD).
OBJECTIVE: To characterize outer retinal structure in BVMD using spectral-domain optical coherence tomography (SD-OCT) and AOSLO.
DESIGN, SETTING, AND PARTICIPANTS: Prospective, observational case series. Four symptomatic members of a family with BVMD with known BEST1 mutation were recruited at the Advanced Ocular Imaging Program research lab at the Medical College of Wisconsin Eye Institute, Milwaukee.
INTERVENTION: Thickness of 2 outer retinal layers corresponding to photoreceptor inner and outer segments was measured using SD-OCT. Photoreceptor mosaic AOSLO images within and around visible lesions were obtained, and cone density was assessed in 2 subjects.
MAIN OUTCOME AND MEASURE: Photoreceptor structure.
RESULTS: Each subject was at a different stage of BVMD, with photoreceptor disruption evident by AOSLO at all stages. When comparing SD-OCT and AOSLO images from the same location, AOSLO images allowed for direct assessment of photoreceptor structure. A variable degree of retained photoreceptors was seen within all lesions. The photoreceptor mosaic immediately adjacent to visible lesions appeared contiguous and was of normal density. Fine hyperreflective structures were visualized by AOSLO, and their anatomical orientation and size were consistent with Henle fibers.
CONCLUSIONS: AND RELEVANCE: The AOSLO findings indicate that substantial photoreceptor structure persists within active lesions, accounting for good visual acuity in these patients. Despite previous reports of diffuse photoreceptor outer segment abnormalities in BVMD, our data reveal normal photoreceptor structure in areas adjacent to clinical lesions. This study demonstrates the utility of AOSLO for understanding the spectrum of cellular changes that occur in inherited degenerations such as BVMD. Photoreceptors are often significantly affected at various stages of inherited degenerations, and these changes may not be readily apparent with current clinical imaging instrumentation.
Author List
Kay DB, Land ME, Cooper RF, Dubis AM, Godara P, Dubra A, Carroll J, Stepien KEAuthors
Joseph J. Carroll PhD Director, Professor in the Ophthalmology and Visual Sciences department at Medical College of WisconsinRobert F. Cooper Ph.D Assistant Professor in the Biomedical Engineering department at Marquette University
Megan E. Maticek MD Staff Physician in the Ophthalmology and Visual Sciences department at Medical College of Wisconsin
MESH terms used to index this publication - Major topics in bold
AdolescentAxial Length, Eye
Bestrophins
Chloride Channels
Eye Proteins
Female
Humans
Male
Middle Aged
Ophthalmoscopy
Pedigree
Prospective Studies
Retinal Photoreceptor Cell Outer Segment
Tomography, Optical Coherence
Visual Acuity
Vitelliform Macular Dystrophy
