Intravitreal ranibizumab (Lucentis) for choroidal neovascularization associated with vitelliform macular dystrophy

Querques, Giuseppe; Bocco, M.C. Angulo; Soubrane, G.; Souied, Eric H.

doi:10.1111/j.1600-0420.2007.01132.x

Cited by 38 publications

(22 citation statements)

References 6 publications

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“…3 There have been several reports of favorable outcomes with the use of anti-VEGF therapy. 21,22 This has turned out to be consistent with our study, where the patients' sub-or intraretinal fluid has resolved from injections of bevacizumab.…”

Section: Discussionsupporting

confidence: 78%

A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy

Zhao

Grob

Corey

et al. 2012

Eye

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Purpose To determine the genetic basis of early onset autosomal recessive Best vitelliform macular dystrophy (arBVMD) in a family with three affected children. Design Clinical and family-based genetic study. Methods Seven subjects making up a family with three children affected by Best vitelliform macular dystrophy were studied. Standard ophthalmic exam with dilated ophthalmoscopy and imaging were performed in each individual. The eleven exons of BEST1 were directly sequenced. Results All three affected children have the clinical characteristic features of Best vitelliform macular dystrophy: large macular vitelliform lesions, scattered vitelliform lesions along the arcades and in the peripheral retina, and an accumulation of serous retinal fluid. A novel compound heterozygous mutation in the BEST1 gene was found in the three affected individuals (L41P and I201T). The unaffected parents and children only harbor one heterozygous mutation. Conclusion arBVMD can be caused by the compound heterozygous mutation L41P and I201T in the BEST1 gene.

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Section: Discussionsupporting

confidence: 78%

A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy

Zhao

Grob

Corey

et al. 2012

Eye

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“…From a clinical perspective, atypical presentations such as multifocal vitelliform lesions [21–26], as well as the occurrence of choroidal neovascularization in various stages of the disease may confound the diagnosis at first [24, 27–36]. A reliable EOG test is dependent on patients’ full cooperation, which is a challenge in the pediatric population.…”

mentioning

confidence: 99%

Multimodal fundus imaging in Best vitelliform macular dystrophy

Ferrara

Costa

Tsang

et al. 2010

Graefes Arch Clin Exp Ophthalmol

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Background Best vitelliform macular dystrophy (BVMD) is a rare autosomal dominant retinal disease of highly variable phenotypic expression. Interpretations of disease mechanisms based on histopathology, electrophysiology, genetic analysis, and retinal imaging are somewhat discordant in fundamental issues such as the location and extension of primary retinal changes. Herein we describe the morphological macular features in patients with BVMD undergoing simultaneous multimodal fundus imaging and compare to those of normal age-matched subjects. Methods Comparative study including seven patients with BVMD (14 eyes) and seven age-matched healthy subjects (14 eyes). All participants were submitted to complete ophthalmological examination, fundus photography, and standardized multimodal fundus imaging protocol including Fourier-domain optical coherence tomography (Fd-OCT) combined with near-infrared reflectance and blue-light fundus autofluorescence (FAF). Results In two eyes in the “subclinical” stage, Fd-OCT revealed thickening of the middle highly reflective layer (HRL) localized between the photoreceptors’ inner/outer segments junction (inner-HRL) and RPE/Bruch’s membrane reflective complex (outer-HRL) throughout the macula. In one eye in the “vitelliform” stage, a homogeneous hyper-reflective material on Fd-OCT was observed between the middle-HRL and outer-HRL; this material presented increased fluorescence on FAF. The outer nuclear layer (ONL) was thinned in the central macula and subretinal fluid was not identified in these earlier disease stages. In patients of “pseudohypopyon” (two eyes), “vitelliruptive” (eight eyes) and “atrophic” (one eye) stages, Fd-OCT revealed a variety of changes in the middle- and inner-HRLs and thinning of ONL. These changes were found to be associated with the level of visual acuity observed. Thickening of the middle-HRL was observed beyond the limits of the clinically evident macular lesion in all eyes. Conclusions Multimodal fundus imaging demonstrated thickening of the reflective layer corresponding to the photoreceptors’ outer segments throughout the macula with no subretinal fluid accumulation as the earliest detectable feature in BVMD. Changes detected in the photoreceptors’ reflective layers (middle- and inner- HRLs) and ONL thinning seemed to be progressive with direct implications for the level of visual acuity impairment observed among the different stages of the disease.

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“…Leakage does not seem to be the most likely explanation, because there are no unequivocal signs of leakage in the fundus photo or in the fluorescein angiogram. There may be other explanations, for example, the one offered by the group at Creteil (Querques et al. 2008), that is, that they are caused by a gradual resorption of the vitelliform material.…”

Section: Discussionmentioning

confidence: 99%

“…A 1-year follow-up, showing an improvement, has been presented earlier (Frennesson et al 2004). Today, many patients with Best disease and CNV are being treated with ranibizumab, resulting in stabilized or improved acuity (Querques et al 2008;Caillaux et al 2012). It has been shown that the outcome without treatment is very poor if the initial acuity is low (<0.1; <20 ⁄ 200) (Chung et al 2001), and Iannaccone et al (2011) propose that treatment (anti-VEGF) is appropriate when two of three of the following features are seen: angiographic evidence of CNV and ⁄ or presence of new blood, rapid decline in VA and reduced vision in the other eye.…”

Section: Discussionmentioning

confidence: 99%

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Best vitelliform macular dystrophy in a Swedish family: genetic analysis and a seven‐year follow‐up of photodynamic treatment of a young boy with choroidal neovascularization

Frennesson

Wadelius

Nilsson

2013

Acta Ophthalmologica

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. Purpose: 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. Methods: The five members of three generations of a family with VMD underwent a thorough ophthalmological examination, including best‐corrected visual acuity (VA), visual field, colour vision, biomicroscopy of the posterior segment (dilated), fundus photography and electro‐oculography (EOG). For the proband, an eleven‐year‐old boy, his father and grandfather, dark adaptation test, angiography and electroretinography (ERG) were also performed. After PCR amplification, the genotype was determined by cleavage with restriction enzyme, specific for the W93C allele. Results: Four family members had an abnormal EOG response. All showed the W93C mutation in the VMD2 gene. Visual acuity ranged from 20/20 to 20/250. The fundus manifestations varied from minor pigmentary changes over egg yolk‐like lesions to chorioretinal atrophy, and fluorescein angiography showed corresponding pathology. In the proband, VA decreased during follow‐up from 0.5 (20/40) to 0.08 (20/250) due to a subfoveal neovascularization with haemorrhage, and PDT with visudyne was begun. The haemorrhage resolved within 2 months, and after three treatments, VA had increased to 0.25 (20/80). One year later, acuity had improved to 0.5 (20/40), and this result was stable throughout the 7 years of the follow‐up. Conclusion: The mutation was determined to be W93C, the most common mutation in VMD in Sweden. In an eleven‐year‐old boy with subretinal neovascularization, PDT seemed to be beneficial also in a long‐term follow‐up.

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Intravitreal ranibizumab (Lucentis) for choroidal neovascularization associated with vitelliform macular dystrophy

Cited by 38 publications

References 6 publications

A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy

A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy

Multimodal fundus imaging in Best vitelliform macular dystrophy

Best vitelliform macular dystrophy in a Swedish family: genetic analysis and a seven‐year follow‐up of photodynamic treatment of a young boy with choroidal neovascularization

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