scholarly journals Association of Optic Nerve Head Drusen with Best Vitelliform Macular Dystrophy: A Case Series

2018 ◽  
Vol 9 (1) ◽  
pp. 82-92 ◽  
Author(s):  
Robert J. White ◽  
Daniel J. Watson ◽  
Dara D. Koozekanani ◽  
Sandra R. Montezuma
Keyword(s):  
Optic Nerve ◽  
Ultrasound Imaging ◽  
Optic Nerve Head ◽  
Multimodal Imaging ◽  
Chart Review ◽  
Case Series ◽  
Macular Dystrophy ◽  
Vitelliform Macular Dystrophy ◽  
Best Vitelliform Macular Dystrophy ◽  
Optic Nerve Head Drusen

Purpose: To report the association of optic nerve head (ONH) drusen with Best vitelliform macular dystrophy (BVMD). Methods: Chart review. Patients: Five patients from 3 families. Results: Multimodal imaging and ophthalmic examination demonstrated findings consistent with ONH drusen, in association with BVMD, in 5 patients. Conclusion: We report the association of BVMD with ONH drusen in 5 patients. This combination has previously been reported only once. We recommend that patients with a diagnosis of BVMD undergo autofluorescence and ultrasound imaging of the optic nerve to help facilitate this diagnosis, as some ONH drusen can be buried.

Multimodal imaging in subclinical best vitelliform macular dystrophy

2020 ◽  
pp. bjophthalmol-2020-317635
Author(s):  
Maurizio Battaglia Parodi ◽  
Alessandro Arrigo ◽  
Alessandro Calamuneri ◽  
Emanuela Aragona ◽  
Francesco Bandello
Keyword(s):  
Multimodal Imaging ◽  
Near Infrared ◽  
Case Series ◽  
Foveal Avascular Zone ◽  
Macular Dystrophy ◽  
Cross Sectional ◽  
Vitelliform Macular Dystrophy ◽  
Best Vitelliform Macular Dystrophy ◽  
Capillary Plexus ◽  
Growth Factor Production

BackgroundTo analyse multimodal imaging alterations in the subclinical form of best vitelliform macular dystrophy (BVMD).MethodsThe study was designed as an observational, cross-sectional case series. Eleven eyes of 7 subclinical patients with BVMD and 12 age-matched and sex-matched controls were included. Multimodal imaging included fundus blue-light autofluorescence, near-infrared autofluorescence (NIR-AF), structural optical coherence tomography (OCT) and OCT angiography (OCTA). The quantitative analysis included the calculation of the following parameters: vessel density (VD), vessel tortuosity (VT), vessel dispersion (Vdisp), vessel rarefaction (VR), foveal avascular zone (FAZ) area, reflectivity of the outer retinal bands and choriocapillaris porosity (CCP).ResultsMean best-corrected visual acuity was 0.0±0.0 LogMAR in both groups. The round central hypoautofluorescent alteration on NIR-AF corresponded to a significant reflectivity attenuation of the outer retinal bands on structural OCT (0.55±0.18 vs 0.75±0.08; p<0.001). VD, VT, VR and Vdisp were normal compared with controls (all p>0.05). The FAZ area turned out to be significantly restricted at the level of the deep capillary plexus in subclinical BVMD eyes (p<0.001). Furthermore, quantitative OCTA revealed a significant central increase of CCP, compared with controls (18.25±2.43 vs 4.58±1.36; p<0.001).ConclusionsThe subclinical stage of BVMD is characterised by significant alterations of the outer retinal bands and the choriocapillaris. Quantitative multimodal imaging assessment suggests that subclinical BVMD is affected by the functional impairment of the outer retinal structures, leading to an alteration in melanin and growth factor production.

scholarly journals Multimodal imaging in best vitelliform macular dystrophy

2019 ◽  
Vol 4 ◽  
pp. 31-31
Author(s):  
Enrico Borrelli ◽  
Riccardo Sacconi ◽  
Francesco Bandello ◽  
Giuseppe Querques
Keyword(s):  
Multimodal Imaging ◽  
Macular Dystrophy ◽  
Vitelliform Macular Dystrophy ◽  
Best Vitelliform Macular Dystrophy

Intravitreal bevacizumab treatment for exudative choroidal neovascularisation in best vitelliform macular dystrophy

2021 ◽  
pp. 112067212110576
Author(s):  
Martina Jarc-Vidmar ◽  
Rok Sega ◽  
Polona Jaki-Mekjavic
Keyword(s):  
Visual Acuity ◽  
Paediatric Patient ◽  
Case Series ◽  
Intravitreal Bevacizumab ◽  
Choroidal Neovascularisation ◽  
Macular Dystrophy ◽  
Central Scar ◽  
Vitelliform Macular Dystrophy ◽  
Best Vitelliform Macular Dystrophy ◽  
Bevacizumab Treatment

Purpose To describe results of intravitreal bevacizumab treatment of the secondary choroidal neovascularisation in Best vitelliform macular dystrophy in an adult and paediatric patient, and present the management of three asymptomatic patients with confirmed BEST1 gene mutation. Case series description Five patients from the same family with the Best vitelliform macular dystrophy are presented. In two patients (aged 63 and 4 years) secondary choroidal neovascularisation caused a rapid decline in visual acuity. In the adult patient with advanced Best vitelliform macular dystrophy, visual acuity did not improve despite eight intravitreal bevacizumab injections to the right eye. The formation of a central scar and rapid reoccurrence of choroidal neovascularisation three months after completing the initial treatment affected the outcome. As for the paediatric patient with bilateral choroidal neovascularisation in the vitelliform stage of Best vitelliform macular dystrophy, a complete recovery of visual acuity was observed after two (left eye) and three (right eye) bevacizumab injections, with adjunctive amblyopia treatment. The other three patients with an abnormal electrooculogram reported no visual problems during more than 10 years of follow-up. Minimal changes were seen on optical coherence tomography in the youngest patient. Conclusions Intravitreal bevacizumab seems to be an effective treatment for exudative choroidal neovascularisation in the vitelliform stage of Best vitelliform macular dystrophy; however, it may not be beneficial in the advanced stages of Best vitelliform macular dystrophy. It is important to regularly screen all family members with an abnormal electrooculogram and confirmed mutation for vitelliform changes and choroidal neovascularisation from an early age. The decision for anti-vascular endothelial growth factor treatment should be made on a case-to-case basis as complications may arise.

Multimodal imaging in a case of best vitelliform macular dystrophy

2021 ◽  
pp. 112067212110087
Author(s):  
Giulia Corradetti ◽  
Federico Corvi ◽  
SriniVas R Sadda
Keyword(s):  
Multimodal Imaging ◽  
Imaging Modality ◽  
Scanning Laser ◽  
Macular Dystrophy ◽  
Scanning Laser Ophthalmoscopy ◽  
Vitelliform Macular Dystrophy ◽  
Best Vitelliform Macular Dystrophy ◽  
Confocal Scanning Laser Ophthalmoscopy ◽  
Confocal Scanning ◽  
Confocal Scanning Laser

We describe a case of Best Vitelliform Macular Dystrophy using the Mirante device by Nidek, a multi-modal confocal scanning laser ophthalmoscopy (SLO) system equipped with Retro Mode Illumination, a relatively new retinal imaging modality.

scholarly journals Correlation of features on OCT with visual acuity and Gass lesion type in best vitelliform macular dystrophy

2021 ◽  
Vol 6 (1) ◽  
pp. e000860
Author(s):  
Razek G Coussa ◽  
Christopher R Fortenbach ◽  
D Brice Critser ◽  
Malia M Collins ◽  
Budd A Tucker ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Case Series ◽  
Structural Features ◽  
Macular Dystrophy ◽  
Retrospective Case ◽  
Vitelliform Macular Dystrophy ◽  
Best Vitelliform Macular Dystrophy ◽  
Lesion Type ◽  
Prognostic Importance ◽  
Endothelial Growth Factor

ObjectiveTo correlate structural features seen on optical coherence tomography (OCT) with best-corrected visual acuity (BCVA) and Gass lesion type in patients with best vitelliform macular dystrophy (BVMD).Methods and analysisThis is a retrospective case series of consecutive patients with molecularly confirmed BEST1-associated BVMD. OCT scans were reviewed for lesion status and presence of subretinal pillar, focal choroidal excavation (FCE), intraretinal fluid or atrophy. Available OCT angiography images were used to evaluate for the presence of choroidal neovascularisation (CNV). These features were then correlated with BCVA and Gass lesion type.Results95 eyes from 48 patients (mean age 38.9 years, range 4–87) were included. The presence of a pillar (24.2%), FCE (20.0%) and atrophy (7.4%) were associated with poor BCVA (p<0.05). Gass lesion type 1 eyes were correlated with good BCVA (LogMAR <0.4) whereas type 5 eyes had poor BCVA (LogMAR >0.4). Among 65 eyes with longitudinal data (mean follow-up 5.1 years), 7 eyes (10.8%) reverted from higher to lower Gass lesion type; of these, 4 eyes (57.1%) had CNV responsive to intravitreal anti-vascular endothelial growth factor treatment.ConclusionOCT-based structural features are readily identifiable in patients with BVMD and have prognostic importance due to their correlation with BCVA.

Predominance of hyperopia in autosomal dominant Best vitelliform macular dystrophy

2020 ◽  
pp. bjophthalmol-2020-317763
Author(s):  
Razek G. Coussa ◽  
Elaine M. Binkley ◽  
Mark E. Wilkinson ◽  
Jeaneen L. Andorf ◽  
Budd A. Tucker ◽  
...  
Keyword(s):  
Refractive Error ◽  
Chart Review ◽  
Autosomal Dominant ◽  
Retrospective Chart Review ◽  
Macular Dystrophy ◽  
Stargardt Disease ◽  
Vitelliform Macular Dystrophy ◽  
Best Vitelliform Macular Dystrophy ◽  
Corrected Visual Acuity ◽  
Manifest Refraction

Background/AimsPatients with BEST1-associated autosomal dominant Best vitelliform macular dystrophy (AD-BVMD) have been reported to be hyperopic, but the prevalence of refractive error has not been described. This study aimed to characterise the type and degree of refractive error in a large cohort of patients with AD-BVMD compared with an age-similar group with ABCA4-associated Stargardt disease.MethodsThis was a retrospective chart review of consecutive patients with molecularly confirmed AD-BVMD and Stargardt macular dystrophy seen at a single academic centre. Demographic information, including age, gender and genotype were extracted from the chart. The best corrected visual acuity (BCVA), as well as type and degree of refractive error on manifest refraction for each eye on each visit, were recorded and compared.ResultsA total of 178 eyes from 89 patients with AD-BVMD (35 women, 54 men; mean age 36.6 years) and 306 eyes from 153 patients (94 women, 59 men, mean age 30.2 years) with Stargardt disease were included in the study. Mean BCVA was excellent for both AD-BVMD and Stargardt eyes (logMAR 0.23 vs logMAR 0.31, respectively; p=0.55). At initial refraction, 73.0% of AD-BVMD eyes (130/178) were hyperopic, with mean spherical equivalent (SE) +1.38 dioptres (median +0.88) whereas 80.7% of Stargardt eyes (247/306) were myopic, with mean SE of −1.76 dioptres (median −1.19) (p<0.001).ConclusionPatients with AD-BVMD are predominantly hyperopic, whereas those with Stargardt disease are predominantly myopic. The findings provide further evidence of a role for BEST1 in ocular growth and development.

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