Three-dimensional Distribution of the Vitelliform Lesion, Photoreceptors, and Retinal Pigment Epithelium in the Macula of Patients With Best Vitelliform Macular Dystrophy

Kay, Christine N.

doi:10.1001/archophthalmol.2011.363

Cited by 54 publications

(54 citation statements)

References 40 publications

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“…Consistent with tomographic measurements in Best disease patients (Figs. 1A, 1B), 28 histological evaluation of the Best disease donor eye showed the outer segments to be remarkably longer than those in control eyes (Figs. 1C, 1D).…”

Section: Resultsmentioning

confidence: 92%

“…37 In contrast, mutations in the gene MERTK completely abrogate all phagocytosis and cause severe photoreceptor degeneration. 38 Three-dimensional analysis of SD-OCT of patients with Best disease reveals these individuals to have long outer segments, 28 similar to those of the dark-reared rabbit. We hypothesized that bestrophin-1 might be required for the circadian component of outer segment phagocytosis and that the loss of this component might be responsible for the elongated outer segments in patients with Best disease.…”

Section: Discussionmentioning

confidence: 95%

“…28 To investigate the histopathologic correlation of these tomographic observations, we reevaluated a previously published human donor eye affected with Best disease (subject B8) and compared it to age-matched control eyes. As described previously, this Best disease sample had a foveal disciform scar 30 but showed intact retina outside of the central area of scarring.…”

Section: Resultsmentioning

confidence: 99%

“…26,27 In addition, we recently used threedimensional (3-D) analysis of spectral domain optical coherence tomography (SD-OCT) to show that in patients with Best disease, the distance between the junction between the inner and outer segments and the inner surface of the RPE across the macula, even outside the vitelliform lesion, is 6.5 lm larger than in normal subjects. 28 Given this, a possible physiological role of the light-dependent slow oscillation of chloride conductance is to facilitate phagocytosis of photoreceptor outer segments by the RPE. Since the repeat variability of 3-D analysis of OCT-based measurement of retinal layer thickness is now below 1.5 lm, 29 we further hypothesized that anatomical changes in the retina associated with the oscillation of the EOG would be visible using 3-D analysis of SD-OCT.…”

mentioning

confidence: 99%

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Human Photoreceptor Outer Segments Shorten During Light Adaptation

Abràmoff

Mullins

Lee

et al. 2013

Invest. Ophthalmol. Vis. Sci.

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PURPOSE. Best disease is a macular dystrophy caused by mutations in the BEST1 gene. Affected individuals exhibit a reduced electro-oculographic (EOG) response to changes in light exposure and have significantly longer outer segments (OS) than age-matched controls. The purpose of this study was to investigate the anatomical changes in the outer retina during dark and light adaptation in unaffected and Best disease subjects, and to compare these changes to the EOG.METHODS. Unaffected (n ¼ 11) and Best disease patients (n ¼ 7) were imaged at approximately 4-minute intervals during an approximately 40-minute dark-light cycle using spectral domain optical coherence tomography (SD-OCT). EOGs of two subjects were obtained under the same conditions. Automated three-dimensional (3-D) segmentation allowed measurement of light-related changes in the distances between five retinal surfaces.RESULTS. In normal subjects, there was a significant decrease in outer segment equivalent length (OSEL) of À2.14 lm (95% confidence interval [CI], À1.77 to À2.51 lm) 10 to 20 minutes after the start of light adaptation, while Best disease subjects exhibited a significant increase in OSEL of 2.07 lm (95% CI, 1.79-2.36 lm). The time course of the change in OS length corresponded to that of the EOG waveform. CONCLUSIONS.Our results strongly suggest that the light peak phase of the EOG is temporally related to a decreased OSEL in normal subjects, and the lack of a light peak phase in Best disease subjects is associated with an increase in OSEL. One potential role of Bestrophin-1 is to trigger an increase in the standing potential that approximates the OS to the apical surface of the RPE to facilitate phagocytosis.

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Section: Resultsmentioning

confidence: 92%

Section: Discussionmentioning

confidence: 95%

Section: Resultsmentioning

confidence: 99%

mentioning

confidence: 99%

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Human Photoreceptor Outer Segments Shorten During Light Adaptation

Abràmoff

Mullins

Lee

et al. 2013

Invest. Ophthalmol. Vis. Sci.

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“…Kay and colleagues, 6 utilizing SD-OCT, suggested that the vitelliform material is located in the subretinal space and concluded that the disease is associated with diffuse photoreceptor outer segment abnormalities overlying a structurally normal RPE.…”

Section: Diagnosis and Discussionmentioning

confidence: 99%

A 5-year-old girl with decreased vision in the left eye

2015

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HistoryA 5-year-old girl was referred to Greenlane Clinical Centre, Auckland, after community-based vision screening revealed decreased vision in her left eye. She was born at full term by normal vaginal delivery weighing 2.9 kg. Past ocular, medical, and family histories were unremarkable. Her parents reported no previous ocular trauma. She was not taking any medications regularly, and her immunizations were up to date.

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