Hereditary retinal dystrophies and choroidal neovascularization

Marano, Filippo; Deutman, August F.; Leys, Anita; Aandekerk, Albert L.

doi:10.1007/s004170000186

Cited by 77 publications

(67 citation statements)

References 18 publications

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“…These results demonstrated a number of hyperfluorescent spots in all eight eyes, and the spots were observed in the midperiphery and the periphery in the areas without visible presence of abnormality, using ophthalmoscopy or fluorescein angiography [36]. Fundus autofluorescence -widespread BVD lesions with accumulation of lipofuscin in RPE were hyperfluorescent and the intensity of fundus autofluorescence has paralleled the amount and distribution of lipofuscin [14].…”

Section: Ophthalmological Evaluationmentioning

confidence: 72%

“…The atrophic stage usually occurs after the age of 40. Most individuals diagnosed with Best vitelliform macular dystrophy have an affected parent, however disease can be caused by de novo mutation [14,21]. Although instances of germline mosaicism have not been reported, this still remains a possibility when the parents test negative for BVD [21,22].…”

Section: Clinicsmentioning

confidence: 99%

“…The mutations responsible for Best vitelliform macular dystrophy are found in a gene called VMD2 that is located on chromosome 11q13 [13]. The VMD2 gene encodes a transmembrane protein named bestrophin-1 (hBest1), which is a Ca 2+ -sensitive chloride channel [14].The protein is located in basolateral plasma membrane of RPE cells [15]. Abnormal chloride conductance across the basolateral membrane of RPE may lead to accumulation of fluid and/or debris between the RPE and the Bruch membrane, leading to detachment and secondary photoreceptor degeneration [16].…”

Section: Etiologymentioning

confidence: 99%

“…Visual symptoms can include decreased acuity (blurring) and metamorphopsia. These symptoms may worsen if the disease progresses to the atrophic stage [20,29,30]. Since visual acuity remains normal for a long time, the atrophy starts only in the fifth decade of life, hence the BVD is commonly diagnosed late [20].…”

Section: Ophthalmological Evaluationmentioning

confidence: 99%

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Best vitelliform macular dystrophy: literature review

Būdienė

Liutkevičienė²,

Žaliūnienė

2014

Open Medicine

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AbstractBest vitelliform macular dystrophy (BVD) is a slowly progressive form of macular dystrophy. In most cases this disease begins in childhood although sometimes it can develop in later age. The diagnosis of BVD is based on family history, clinical and electrophysiological findings. Clinical signs are variable, yet the majority of patients have a typical yellow yolk-like macular lesion in the eye fundus. Lesions are usually bilateral, but in rare cases can be unilateral. Atrophy of the macula may develop after many years. The mutations responsible for Best vitelliform macular dystrophy are found in a gene called VMD2, which encodes a transmembrane protein named bestrophin-1 (hBest1) that is a Ca2+-sensitive chloride channel. Most reported cases causing the disease are in exons 2, 4, 6 and 8 in patients with BVD. In this article we discuss the etiology of Best’s vitelliform macular dystrophy, clinical presentation, diagnostics, genetic and current treatment possibilities.

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Section: Ophthalmological Evaluationmentioning

confidence: 72%

Section: Clinicsmentioning

confidence: 99%

Section: Etiologymentioning

confidence: 99%

Section: Ophthalmological Evaluationmentioning

confidence: 99%

See 2 more Smart Citations

Best vitelliform macular dystrophy: literature review

Būdienė

Liutkevičienė²,

Žaliūnienė

2014

Open Medicine

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“…Visual symptoms can include decreased acuity (blurring) and metamorphopsia. They may worsen if the disease progresses to the atrophic stage [6,13,14].…”

Section: Discussionmentioning

confidence: 99%

Best vitelliform macular dystrophy: clinical case report

Ašmonienė¹,

Klobus²,

Liutkevičienė³

et al. 2017

Eye Care Vis

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We report a case of Best vitelliform macular dystrophy (BVD) in an 8-year-old boy complaining of reduced visual acuity in both eyes for several months. His bestcorrected visual acuity in the right eye was 0.6 and 0.3 in the left eye. Ophthalmoscopy of the right eye revealed a big yellow macular lesion surrounded by few smaller lesions with clear content and moderate edema in the central part of the retina (similar to BVD "scrambled egg" stage). In his left eye, we found a big round lesion with clear liquid boundary in the central part of the retina (similar to BVD pseudohypopyon stage). In the electro-oculogram Arden index of the right eye was 0.78 and 0.7 of the left eye (normal more than 1.8 (if <1.8; typical to BVD). We found a heterozygous mutation in exon 7 of the BEST1 gene (c.728A>T p.D243V), and conclude that the patient is very likely to suffer from BVD due to a mutation in the BEST1 gene. There were no detected mutations of the BEST1 gene in patient's both parents. We only observe this patient every 6 months because there is no causal treatment for this disorder yet.

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Heritable Disorders of RPE, Bruch’s Membrane, and the Choriocapillaris

Drack¹

2006

Handbook of Pediatric Retinal Disease

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Hereditary retinal dystrophies and choroidal neovascularization

Abstract: We emphasize the relatively favourable visual prognosis in patients suffering from inherited retinal dystrophies complicated with choroidal neovascularization. Therapeutic approaches other than laser treatment could be attempted in these patients.

Cited by 77 publications

References 18 publications

Best vitelliform macular dystrophy: literature review

Best vitelliform macular dystrophy: literature review

Best vitelliform macular dystrophy: clinical case report

Heritable Disorders of RPE, Bruch’s Membrane, and the Choriocapillaris

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