Clinical findings in eyes with BEST1-related retinopathy complicated by choroidal neovascularization

Miyagi, Mai; Takeuchi, Jun; Koyanagi, Yoshito; Mizobuchi, Kei; Hayashi, Takaaki; Ito, Yasuki; Terasaki, Hiroko; Nishiguchi, Koji M.; Ueno, Shinji

doi:10.1007/s00417-021-05447-y

Cited by 9 publications

(7 citation statements)

References 25 publications

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Section: Resultsmentioning

confidence: 99%

“…8 Best dystrophy MNV in Best dystrophy, diagnosed on OCT angiography (OCTA), has been reported to have a high prevalence of up to 35%. 9 MNV has been variably described as being both exudative and non-exudative in different stages of Best dystrophy and can occur in earlier stages such as vitelliform and pseudohypopyon stages, and not necessarily as a late complication. 9 PDT has been shown to be successful in the treatment of CNV in numerous case reports.…”

Section: Autosomal Recessive Bestrophinopathymentioning

confidence: 99%

“…9 MNV has been variably described as being both exudative and non-exudative in different stages of Best dystrophy and can occur in earlier stages such as vitelliform and pseudohypopyon stages, and not necessarily as a late complication. 9 PDT has been shown to be successful in the treatment of CNV in numerous case reports. [10][11][12][13][14] These patients have had 1-3 applications of PDT with no recurrences of CNV over a follow-up period ranging from 2 to 8.75 years.…”

Section: Autosomal Recessive Bestrophinopathymentioning

confidence: 99%

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Clinical outcomes of treated macular neovascularisation secondary to inherited retinal diseases: a literature review

Makuloluwa

Madhusudhan

2023

BMJ Open Ophth

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Section: Resultsmentioning

confidence: 99%

Section: Autosomal Recessive Bestrophinopathymentioning

confidence: 99%

Section: Autosomal Recessive Bestrophinopathymentioning

confidence: 99%

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Clinical outcomes of treated macular neovascularisation secondary to inherited retinal diseases: a literature review

Makuloluwa

Madhusudhan

2023

BMJ Open Ophth

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“…Anti-VEGF treatment for exudative MNV in BVMD is largely endorsed while the non-exudative forms remain stable without receiving any treatment, which may even accelerate atrophic changes with consequent functional deterioration. 66 , 72 Quantitative OCTA analysis revealed that exudative MNV in BVMD is characterized by higher values of vessel tortuosity, a parameter that reflects vascular perfusion, and vessel dispersion, a parameter that provides information about the vascular network disorganization, with respect to non-exudative ones. 66 One may speculate that exudative MNV is associated with a rapidly growing neovascular network, possibly related to a cytokine/trophic factor imbalance triggered by the progressive accumulation of vitelliform material in the early stage of the disease; vice versa, non-exudative MNV develops more slowly, have lower vascular disorganization and support the augmented trophic demand the outer retina due to large lipofuscin accumulation impairing the normal metabolic exchanges between POS and RPE.…”

Section: Oct Angiography (Octa)mentioning

confidence: 99%

Multimodal imaging in Best Vitelliform Macular Dystrophy: Literature review and novel insights

Bianco

Arrigo

Antropoli

et al. 2023

European Journal of Ophthalmology

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Best Vitelliform Macular Dystrophy (BVMD) is a dominantly inherited retinal disease caused by dominant variants in the BEST1 gene. The original classification of BVMD is based on biomicroscopy and color fundus photography (CFP); however, advancements in retinal imaging provided unique structural, vascular, and functional data and novel insights on disease pathogenesis. Quantitative fundus autofluorescence studies informed us that lipofuscin accumulation, the hallmark of BVMD, is unlikely to be a primary effect of the genetic defect. It could be due to a lack of apposition between photoreceptors and retinal pigment epithelium in the macula with subsequent accumulation of shed outer segments over time. Optical Coherence Tomography (OCT) and adaptive optics imaging revealed that vitelliform lesions are characterized by progressive changes in the cone mosaic corresponding to a thinning of the outer nuclear layer and then disruption of the ellipsoid zone, which are associated with a decreased sensitivity and visual acuity. Therefore, an OCT staging system based on lesion composition, thus reflecting disease evolution, has been recently developed. Lastly, the emerging role of OCT Angiography proved a greater prevalence of macular neovascularization, the majority of which are non-exudative and develop in late disease stages. In conclusion, effective diagnosis, staging, and clinical management of BVMD will likely require a deep understanding of the multimodal imaging features of this disease.

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“…Best's disease can be complicated by the development of macular neovascularization (MNV) (5-91%), in rare cases, the formation of a macular hole is observed [5,7]. Macular neovascularization occurs in about 20 % of patients.…”

Section: Introductionmentioning

confidence: 99%

Best's Disease: Diagnostic Criteria and Antiangiogenic Therapy Efficacy - A Case Report

Kopylov¹,

Korolenko²

2023

Act Sci Oph

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Purpose: To present a case report of diagnosis and management of a child's macular neovascularization (MNV) associated with Best's vitelliform macular dystrophy. Material and Methods:A 15-year-old patient with decreased vision in both eyes (more left than right). The vision decrease was first detected during an examination, including the determination of the best corrected visual acuity (BCVA), the vision field, and the collection of a genealogical history; OCT and OCTA revealed macular degeneration and active MNV.Results and Discussion: Stabilization of the pathological process in the form of adhering of the neuroepithelium detachment over the MNV was achieved only in the right eye after the 1 st ranibizumab injection. Relapses and continued activity of newly formed vessels were noted in the left eye.The lack of sufficient suppression of de novo vessels can be explained by 1 MNV type, deposition of lipofuscin-like material and presence of a large adductor vessel -a branch of the posterior short ciliary artery, which in general are prognostically unfavorable factors determining possible relapses and progression of pathological retinal changes. At the same time, during the natural disease course, the vitelliform material was displaced by gravity into the lower segments of the macular region and its further resorption, while the active adductor vessel was preserved. Conclusion:Kids' diagnosis of Best's vitelliform macular dystrophy is based on a complex of studies, including the collection of genealogical history, OCT, OCTA, autofluorescence. It is possible to verify the disease at early stages of the pathological process, to conduct timely therapy and adequate monitoring with an assessment of the activity degree of newly formed vessels and structural retinal changes. The key factors determining the need for antiangiogenic therapy in children with Best's disease are not only the active form of MNV, but also structural retinal changes and the state of visual functions.

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Clinical findings in eyes with BEST1-related retinopathy complicated by choroidal neovascularization

Cited by 9 publications

References 25 publications

Clinical outcomes of treated macular neovascularisation secondary to inherited retinal diseases: a literature review

Clinical outcomes of treated macular neovascularisation secondary to inherited retinal diseases: a literature review

Multimodal imaging in Best Vitelliform Macular Dystrophy: Literature review and novel insights

Best's Disease: Diagnostic Criteria and Antiangiogenic Therapy Efficacy - A Case Report

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