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Vitelliform Macular Dystrophy

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Autosomal dominant hereditary maculopathy with childhood-onset accumulation of LIPOFUSION in RETINAL PIGMENT EPITHELIUM. Affected individuals develop progressive central acuity loss, and distorted vision (METAMORPHOPSIA). It is associated with mutations in bestrophin, a chloride channel.

Also Known As:

Adult-Onset Vitelliform Macular Dystrophy; Best Disease; Best Macular Dystrophy; Best Vitelliform Macular Dystrophy; Best's Disease; Juvenile-Onset Vitelliform Macular Dystrophy; Vitelliform Macular Dystrophy, Adult-Onset; Vitelliform Macular Dystrophy, Juvenile-Onset; Adult Onset Vitelliform Macular Dystrophy; Bests Disease; Disease, Best; Disease, Best's; Dystrophies, Vitelliform Macular; Dystrophy, Best Macular; Dystrophy, Vitelliform Macular; Juvenile Onset Vitelliform Macular Dystrophy; Macular Dystrophies, Vitelliform; Macular Dystrophy, Best; Macular Dystrophy, Vitelliform; Vitelliform Macular Dystrophies; Vitelliform Macular Dystrophy, Adult Onset; Vitelliform Macular Dystrophy, Juvenile Onset

Networked: 157 relevant articles (9 outcomes, 9 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Choroidal Neovascularization
2.	Pyoderma Gangrenosum
3.	Retinal Perforations
4.	Macular Degeneration (Age-Related Maculopathy)
5.	Vitelliform Macular Dystrophy

Experts

1.	Marmorstein, Alan D: 8 articles (01/2015 - 11/2002)
2.	Stone, Edwin M: 7 articles (05/2015 - 02/2003)
3.	Stanton, J Brett: 7 articles (01/2015 - 11/2002)
4.	Marmorstein, Lihua Y: 7 articles (01/2015 - 10/2004)
5.	Yu, Kuai: 5 articles (12/2013 - 11/2006)
6.	Mullins, Robert F: 4 articles (05/2015 - 11/2005)
7.	Hartzell, H Criss: 4 articles (03/2010 - 11/2006)
8.	Peachey, Neal S: 4 articles (03/2010 - 11/2002)
9.	Zack, Donald J: 4 articles (01/2009 - 02/2003)
10.	Campochiaro, Peter A: 4 articles (01/2009 - 02/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Vitelliform Macular Dystrophy:

1.	bevacizumab FDA Link 12/01/2012 - "Intravitreal bevacizumab injection induced total regression of CNV as well as a morphologic and functional improvement in a young man affected by bilateral CNV secondary to Best's disease in a long-term follow-up." 03/01/2015 - "Evolution of Choroidal Neovascular Membrane in Best Disease after Single Intravitreal Bevacizumab. " 11/01/2007 - "To describe the effect of intravitreal bevacizumab for the treatment of choroidal neovascularisation secondary to vitelliform dystrophy of the macula (Best's disease). " 11/01/2007 - "Choroidal neovascularisation secondary to Best's disease in a 13-year-old boy treated by intravitreal bevacizumab." 11/01/2007 - "A single intravitreal injection of bevacizumab may be effective to induce morphologic and functional improvement in a juvenile suffering from CNV secondary to Best's disease."
2.	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 05/01/2011 - "This case underlines the efficiency efficacy of intravitreal anti-VEGF therapy for choroidal neovascularization in Best's disease." 01/01/2013 - "This report focuses on the quality and depth of new evidence for the use of VEGF inhibitors in selected pediatric ocular diseases, including Coats' disease, Best disease, and childhood uveitis. " 01/01/2013 - "An evidence-based review of vascular endothelial growth factor inhibition in pediatric retinal diseases: part 2. Coats' disease, best disease, and uveitis with childhood neovascularization." 12/01/2004 - "To eliminate this possible confounding factor, we used the human vitelliform macular dystrophy 2 (VMD2) promoter, an RPE-specific promoter, combined with the tetracycline-inducible promoter system, to generate double transgenic mice with inducible expression of VEGF in RPE cells. " 07/01/2014 - "Our results show co-expression of functional anti-VEGF-miRNAs and PEDF in cell studies, and in vivo studies reveal an efficient retinal pigment epithelium (RPE)-specific gene expression following the incorporation of the vitelliform macular dystrophy 2 (VMD2) promoter, demonstrating the potential applicability of our multigenic LV vectors in ocular anti-VEGF gene therapy, including combination therapy for treatment of exudative AMD. "
3.	1-phenyl-3,3-dimethyltriazene (PDT)IBA 06/01/2015 - "To report long-term results of photodynamic therapy (PDT) in young patients affected by Best vitelliform macular dystrophy (VMD) complicated by choroidal neovascularization (CNV). " 05/01/2014 - "To determine the mutation in a Swedish family with Best disease (vitelliform macular dystrophy; VMD) and to investigate the short- and long-term effects of photodynamic treatment (PDT) on subretinal neovascularization in a young boy. " 01/01/2010 - "The use of bevacizumab and PDT in the management of Best disease seems to be a very effective method of treatment showing improvement in visual acuity.This" 01/01/2010 - " is the first case to be reported in the literature of bevacizumab in combination with PDT for the treatment of choroidal neovascularization in Best disease." 07/01/2012 - "To describe the results of photodynamic therapy (PDT) with verteporfin for the treatment of choroidal neovascularization (CNV) associated with Best vitelliform macular dystrophy (BVMD) in children. "
4.	Triamcinolone Acetonide (Azmacort)FDA LinkGeneric 02/01/2009 - "An 11-year-old girl with active subfoveal choroidal neovascularization associated with Best disease responded well to a single intravitreal injection of combined bevacizumab and triamcinolone acetonide. "
5.	Rifampin (Rifampicin)FDA LinkGeneric 01/01/1991 - "The empirical addition of dapsone and rifampicin led to complete healing in two others, but only transient remission in one patient who, after 22 years of disease activity, died at home from an aggressive and accelerated form of the disease best described as 'malignant pyoderma' gangrenosum."
6.	Dapsone FDA Link 01/01/1991 - "The empirical addition of dapsone and rifampicin led to complete healing in two others, but only transient remission in one patient who, after 22 years of disease activity, died at home from an aggressive and accelerated form of the disease best described as 'malignant pyoderma' gangrenosum."
7.	densironIBA 01/01/2012 - "Heavy silicone oil effective in macular hole surgery associated with adult vitelliform macular dystrophy."
8.	Retinaldehyde (Retinal)IBA 07/01/2011 - "Two young siblings affected by Best disease, as confirmed by funduscopy, retinal imaging, and electrophysiologic assessment, were recruited for the study. " 10/01/2010 - "The purpose of this study was to investigate morphologic differences in a consecutive case series of patients suffering from adult-onset vitelliform macular dystrophy with cuticular drusen (CD) compared with another patient group with a vitelliform lesion only using high-resolution in vivo retinal imaging. " 07/01/2001 - "The aim of the study was to asses the neurosensory retinal function in 12 patients (24 eyes) with different stages of Best's disease, by determining how pattern and full field flash ERG responses were related to visual acuity, stage of disease and extent of visual field loss. " 01/01/1990 - "The aim of this study was to assess inner retinal function in patients with Best's disease using the pattern ERG (PERG). " 01/01/2015 - "Mutations in BEST1, encoding Bestrophin-1 (Best1), cause Best vitelliform macular dystrophy (BVMD) and other inherited retinal degenerative diseases. "
9.	LipofuscinIBA 01/01/2016 - "A hallmark of Best's disease is the fast lipofuscin accumulation occurring already at young ages. " 01/01/2016 - "Quantitative Fundus Autofluorescence in Best Vitelliform Macular Dystrophy: RPE Lipofuscin is not Increased in Non-Lesion Areas of Retina." 02/01/2005 - "Optical coherence tomography demonstrated that the lipofuscin accumulated in a cystic space underneath the retinal pigment epithelium in the "pseudohypopyon stage" of Best's disease. " 12/01/2003 - "In many inherited macular dystrophies such as Best's disease abnormally high levels of lipofuscin were found by histopathological studies. " 08/01/2015 - "Best vitelliform macular dystrophy is a hereditary retinal disease characterized by accumulation of lipofuscin in the central macula of both eyes. "
10.	Carbon MonoxideIBA 12/01/1996 - "This points to a need for greater interdisciplinary co-operation for a best disease definition and for the development of effective prevention measures." 07/01/2014 - "Our results show co-expression of functional anti-VEGF-miRNAs and PEDF in cell studies, and in vivo studies reveal an efficient retinal pigment epithelium (RPE)-specific gene expression following the incorporation of the vitelliform macular dystrophy 2 (VMD2) promoter, demonstrating the potential applicability of our multigenic LV vectors in ocular anti-VEGF gene therapy, including combination therapy for treatment of exudative AMD. "

Therapies and Procedures

1.	Intravitreal Injections 11/01/2007 - "A single intravitreal injection of bevacizumab may be effective to induce morphologic and functional improvement in a juvenile suffering from CNV secondary to Best's disease." 02/01/2009 - "An 11-year-old girl with active subfoveal choroidal neovascularization associated with Best disease responded well to a single intravitreal injection of combined bevacizumab and triamcinolone acetonide. "
2.	Photochemotherapy (Photodynamic Therapy) 01/01/2012 - "Ophthalmologists must be aware that peripapillary CNV may occasionally complicate Best disease and can be successfully treated with photodynamic therapy." 01/01/2012 - "A 12-year-old boy who was previously diagnosed with Best disease was treated with reduced fluence photodynamic therapy for subfoveal CNV in the right eye. " 06/01/2015 - "Long-Term Results of Photodynamic Therapy for Choroidal Neovascularization in Pediatric Patients with Best Vitelliform Macular Dystrophy." 07/01/2012 - "Photodynamic therapy for best disease complicated by choroidal neovascularization in children." 03/01/2010 - "The authors recently observed a boy with bilateral choroidal neovascularization associated with Best's disease and compared the outcome of photodynamic therapy in one eye with the natural history of the untreated fellow eye. "
3.	Drug Therapy (Chemotherapy) 08/01/2009 - "Multimodality therapy encompassing surgical resection, radiation therapy (RT), and chemotherapy may provide the best disease-free and overall survival (OS). " 09/01/1997 - "Patients given perioperative intraportal chemotherapy but no transfusion had the best disease-free survival. " 09/01/2014 - "Combined chemotherapy and radiotherapy achieves the best disease control rates and results in many long-term survivors. " 10/01/2014 - "IVB was administered concurrently to systemic chemotherapy that demonstrated at best disease stability in metastases in other organs. " 10/01/2014 - "This is the first case report where 1.25mg intravitreal bevacizumab (IVB) correlated with choroidal mass resolution from metastatic breast cancer given concurrently with chemotherapy demonstrating, at best, disease stability in other organs. "
4.	Radiotherapy 09/01/2014 - "Combined chemotherapy and radiotherapy achieves the best disease control rates and results in many long-term survivors. " 08/01/2004 - "The results indicate that the best disease-free rates can be achieved by managing laryngeal carcinoma surgically with or without radiotherapy depending on the advancement and aggressiveness of the disease."
5.	Lasers (Laser) 10/01/2010 - "Simultaneous spectral domain optical coherence tomography (870 nm, 40.000 A-scans per second) and confocal scanning laser ophthalmoscopy were performed in 6 patients (12 eyes) with adult-onset vitelliform macular dystrophy using a combined instrument (Spectralis HRA+OCT; Heidelberg Engineering, Heidelberg, Germany). " 01/01/1995 - "Using a scanning laser ophthalmoscope (SLO), the ocular fundus of a patient with Best's vitelliform macular dystrophy was examined. " 01/01/1995 - "Observation of macular lesion in Best's vitelliform macular dystrophy by scanning laser ophthalmoscope."