Adult-onset foveomacular vitelliform dystrophy: A fresh perspective

Chowers, Itay; Tiosano, Liran; Audo, Isabelle; Grunin, Michelle; Boon, Camiel J F

doi:10.1016/j.preteyeres.2015.02.001

Cited by 106 publications

(80 citation statements)

References 127 publications

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“…The known genetic mutations associated with AFVD were identified in genes that are not expressed in the choroid, nor directly related to its physiology 9. It is known that vitelliform material accumulates between the RPE and the outer segments of the photoreceptors and it is composed of photoreceptor outer segment debris as well as lipofuscin, melanin and melanolipofuscin-loaded macrophages and RPE cells 14 15.…”

Section: Discussionmentioning

confidence: 99%

“…Spectral domain optical coherence tomography (SD-OCT) shows a dome-shaped lesion located between the sensory retina and the retinal pigment epithelium (RPE) 8. However, AFVD is not a monogenic disorder, and some of the genes involved, such as PRPH2 or BEST1, are also involved in many other conditions such as Best disease, pattern dystrophies or butterfly macular dystrophy 9. Therefore, diagnosis of AFVD remains based on clinical features and imaging of the macula 9.…”

Section: Introductionmentioning

confidence: 99%

“…However, AFVD is not a monogenic disorder, and some of the genes involved, such as PRPH2 or BEST1, are also involved in many other conditions such as Best disease, pattern dystrophies or butterfly macular dystrophy 9. Therefore, diagnosis of AFVD remains based on clinical features and imaging of the macula 9. Patients with AFVD typically have slow progressive vision loss.…”

Section: Introductionmentioning

confidence: 99%

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Optical coherence tomography angiography in adult-onset foveomacular vitelliform dystrophy

et al. 2016

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In patients with AFVD, OCT-A showed vascular network rarefaction with less blood vessels at the superficial and deep capillary plexuses, and the choriocapillaris layer. These vascular abnormalities may play a role in the pathogenesis or simply represent a consequence of material accumulation and reabsorption in AFVD. In two cases, the conventional imaging did not show clearly the neovascularisation due to masking effect of the subretinal vitelliform material, while OCT-A showed distinctly the CNV.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Optical coherence tomography angiography in adult-onset foveomacular vitelliform dystrophy

et al. 2016

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“…Vitelliform lesions were identified when there were homogenous hyper‐reflective lesions located in the subretinal space (Chowers et al. 2015). …”

Section: Methodsmentioning

confidence: 99%

Photobiomodulation reduces drusen volume and improves visual acuity and contrast sensitivity in dry age‐related macular degeneration

Merry

Munk

Dotson

et al. 2016

Acta Ophthalmologica

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PurposeTo evaluate the efficacy of photobiomodulation (PBM) treatment for patients with dry age‐related macular degeneration (AMD).MethodsAssessments on 42 eyes with dry AMD (age related eye disease study (AREDS) 2–4) were conducted. Multiwavelength light emitting diode (LED) light comprising of yellow (590 nm), red (670 nm) and near‐infrared (790 nm) bandwidths was applied to subjects’ eyes for a treatment course of 3 weeks. Outcome measures were changes in best‐corrected visual acuity (BCVA), contrast sensitivity (CS), drusen volume and central drusen thickness.ResultsSignificant improvement in mean BCVA of 5.90 letters (p < 0.001) was seen on completion of the 3‐week treatment and 5.14 letters (p < 0.001) after 3 months. Contrast sensitivity improved significantly (log unit improvement of 0.11 (p = 0.02) at 3 weeks and 3 months (log unit improvement of 0.16 (p = 0.02) at three cycles per degree. Drusen volume decreased by 0.024 mm3 (p < 0.001) and central drusen thickness was significantly reduced by a mean of 3.78 μm (p < 0.001), while overall central retinal thickness and retinal volume remained stable.ConclusionThis is the first study demonstrating improvements in functional and anatomical outcomes in dry AMD subjects with PBM therapy. These findings corroborate an earlier pilot study that looked at functional outcome measures. The addition of anatomical evidence contributes to the basis for further development of a non‐invasive PBM treatment for dry AMD.

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“…14 Previous terms used include adult vitelliform macular dystrophy, 15,16 adult vitelliform macular degeneration, 17,18 and pseudovitelliform macular degeneration 19 among others. AFVD has historically been included among a spectrum of pattern dystrophies, such as reticular dystrophy of the RPE and butterfly-shaped pigment dystrophy, 14,20 and there can be significant overlap between these heterogeneous groups. There appears to be a wide range of phenotypes for AFVD, and although there is significant variability in the age of onset, patients generally remain asymptomatic until at least the fifth decade.…”

Section: Introductionmentioning

confidence: 99%

Prevalence of reticular pseudodrusen in newly presenting adult onset foveomacular vitelliform dystrophy

Wilde

Lakshmanan

Patel³

et al. 2016

Eye

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Purpose To report the association and prevalence of reticular pseudodrusen (RPD) in eyes with newly presenting adult onset foveomacular vitelliform dystrophy (AFVD). To compare the strength of association with other pathologies resulting from dysfunction of the choroid-Bruch's membrane-retinal pigment epithelium (RPE) complex, including eyes with geographic atrophy (GA) and angioid streaks. Methods Retrospective single-centre review of all consecutive newly presenting AFVD. Multimodal imaging with spectral domain optical coherence tomography, fundus photographs, red-free/blue light images, and fundus fluorescein angiograms were graded for the presence of RPD. For comparison, all consecutive newly presenting cases of GA and eyes with angioid streaks were studied. Results Fifteen (15) patients were identified with AFVD (mean age of 77.3 years; 73.3% female). Mean age of patients with AFVD and RPD was 80.5 years (SD 3.7), whereas that of patients with AFVD without RPD was 75.1 years (SD 7.0). This age difference did not reach statistical significance, P = 0.1. Six (40%) had identifiable RPD; being a bilateral finding in 100% of patients. No males with AFVD and RPD were identified. A total of 92 eyes presented with GA. Twenty-three (23) of these (25.0%) had RPD. Twelve (12) patients presented with identifiable angioid streaks, with 4 (36.4%) having RPD. Conclusion RPD are a frequent finding in eyes with newly presenting AFVD; not being restricted to AMD, but a finding common among diseases where pathophysiological mechanisms involve damage to Bruch's membrane and the RPE, whether genetic or degenerative. Our study supports the concept that they occur with high but variable frequencies in eyes with various pathologies.

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Adult-onset foveomacular vitelliform dystrophy: A fresh perspective

Cited by 106 publications

References 127 publications

Optical coherence tomography angiography in adult-onset foveomacular vitelliform dystrophy

Optical coherence tomography angiography in adult-onset foveomacular vitelliform dystrophy

Photobiomodulation reduces drusen volume and improves visual acuity and contrast sensitivity in dry age‐related macular degeneration

Prevalence of reticular pseudodrusen in newly presenting adult onset foveomacular vitelliform dystrophy

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