0
Original Investigation | Ophthalmic Molecular Genetics

Outer Retinal Structure in Best Vitelliform Macular Dystrophy

David B. Kay, BS1; Megan E. Land, BS1; Robert F. Cooper, BS4; Adam M. Dubis, PhD2; Pooja Godara, MD1; Alfredo Dubra, PhD1,3,4; Joseph Carroll, PhD1,2,3,4; Kimberly E. Stepien, MD1
[+] Author Affiliations
1Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin
2Department of Cell Biology, Neurobiology, and Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin
3Department of Biophysics, Medical College of Wisconsin, Milwaukee, Wisconsin
4Department of Biomedical Engineering, Marquette University, Milwaukee, Wisconsin
JAMA Ophthalmol. 2013;131(9):1207-1215. doi:10.1001/jamaophthalmol.2013.387.
Text Size: A A A
Published online

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.

Figures in this Article

Sign In to Access Full Content

Don't have Access?

Register and get free email Table of Contents alerts, saved searches, PowerPoint downloads, CME quizzes, and more

Subscribe for full-text access to content from 1998 forward and a host of useful features

Activate your current subscription (AMA members and current subscribers)

Purchase Online Access to this article for 24 hours

Figures

Place holder to copy figure label and caption
Figure 1.
Assignment of Outer Retinal Bands on Spectral-Domain Optical Coherence Tomography

A, Horizontal line scan through the fovea of a normal control subject. B, Longitudinal reflectivity profile acquired at the location of the arrow above the spectral-domain optical coherence tomography scan. ELM indicates external limiting membrane; ISe, inner segment ellipsoid; RPE1, outer segment/retinal pigment epithelium interface; and RPE2, retinal pigment epithelium.

Graphic Jump Location
Place holder to copy figure label and caption
Figure 2.
Imaging of Patient IV-3, Left Eye

Early vitelliform findings. A, Fundus examination reveals a focal area of granularity just temporal to the fovea. B, Spectral-domain optical coherence tomography horizontal and vertical scans show normal retinal lamination but focal increased hyperreflectivity in the area of granularity seen clinically. C, Macular microperimetry shows normal point sensitivities in the central 12° (overlay). D, Adaptive optics imaging of this location (montage registered in part C, area imaged indicated by arrows in part B) shows focal photoreceptor mosaic disruption around the area of hyperreflectivity on optical coherence tomography with the photoreceptor mosaic surrounding this area appearing normal. Scale bar = 100 μm.

Graphic Jump Location
Place holder to copy figure label and caption
Figure 3.
Imaging of Patient IV-2, Left Eye

Vitelliform lesion with early vitelliruptive changes. A, Fundus examination reveals a single heterogeneous vitelliform lesion centered just temporal to the fovea. B, Spectral-domain optical coherence tomography horizontal and vertical scans show that the vitelliform lesion contains fluid and debris within the subretinal space. There is patchy disruption of the hyperreflective inner segment ellipsoid band over the lesion. C, Macular microperimetry reveals subnormal point sensitivities in areas overlying the vitelliform lesion and immediately surrounding it (overlay). D, Adaptive optics imaging of the vitelliform lesion and area immediately surrounding this (montage registered in part C, area imaged indicated by arrows in part B) reveals disrupted photoreceptor mosaic over the lesion with normal mosaic seen immediately adjacent to the lesion. Scale bar = 100 μm.

Graphic Jump Location
Place holder to copy figure label and caption
Figure 4.
Imaging of Patient III-5, Right Eye

Vitelliruptive. A, Fundus examination reveals an ovoid area of hypopigmentation containing several fibrotic nodules. B, Spectral-domain optical coherence tomography horizontal and vertical scans show outer retinal atrophy and several focal deposits of debris in the subretinal space, some separated by trace subretinal fluid. Patchy disruption of the hyperreflective inner segment ellipsoid band is evident in some areas. C, Macular microperimetry reveals subnormal point sensitivities in all areas of the central 6° (overlay). D, Adaptive optics imaging of the central fovea (montage registered in part C, area imaged indicated by arrows in part B) reveals significant photoreceptor mosaic disruption overlying these nodules but relative preservation of the photoreceptor mosaic surrounding these lesions. Scale bar = 100 μm.

Graphic Jump Location
Place holder to copy figure label and caption
Figure 5.
Imaging of Patient III-4, Left Eye

Atrophy and fibrosis. A, Fundus examination shows central hypopigmentation with focal pigment mottling and trace epiretinal membrane. B, Spectral-domain optical coherence tomography horizontal and vertical scans show a lamellar hole, trace epiretinal membrane, and loss of the hyperreflective inner segment ellipsoid band. C, Macular microperimetry reveals subnormal point sensitivities in areas central and temporal to the fovea when fibrosis and atrophy are present clinically (overlay). D, Adaptive optics imaging of the central fovea (montage registered in part C, area imaged indicated by arrows in part B) reveals patchy areas of retained photoreceptors between areas of significant photoreceptor loss. Scale bar = 100 μm.

Graphic Jump Location
Place holder to copy figure label and caption
Figure 6.
Assessment of Photoreceptor Layer Thickness in Best Vitelliform Macular Dystrophy

A, Plot of inner segment (IS) length as a function of retinal location along the horizontal meridian. B, Outer segment (OS) length as a function of retinal location along the horizontal meridian. The black line indicates normative data from 93 people, mean (SD) age, 25.7 (8.2) years. The shaded gray area is ±2 SD. Thickness values were not calculated over visible lesion(s).

Graphic Jump Location
Place holder to copy figure label and caption
Figure 7.
Visualization of the Henle Fiber Layer in Best Vitelliform Macular Dystrophy

A, Presence of the vitelliform lesion has altered the angle of the retina structure, allowing for visualization of the Henle fiber layer on spectral-domain optical coherence tomography (arrows). B, Adaptive optics scanning light ophthalmoscopy imaging at this same location focused at the level of the inner retina reveals thin hyperreflective structures running perpendicular to nerve fiber bundles, consistent with known anatomy of Henle fibers.

Graphic Jump Location

Tables

References

Correspondence

CME
Meets CME requirements for:
Browse CME for all U.S. States
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.
NOTE:
Citing articles are presented as examples only. In non-demo SCM6 implementation, integration with CrossRef’s "Cited By" API will populate this tab (http://www.crossref.org/citedby.html).
Submit a Comment

Multimedia

Some tools below are only available to our subscribers or users with an online account.

Sign In to Access Full Content

Related Content

Customize your page view by dragging & repositioning the boxes below.

Articles Related By Topic
Related Topics
PubMed Articles
Jobs
brightcove.createExperiences();