Unilateral Best Disease: A Case Report

Kaden, Talia R; Tan, Anna; Feiner, Leonard; Freund, K. Bailey

doi:10.1097/icb.0000000000000431

Cited by 6 publications

(4 citation statements)

References 16 publications

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“…This is called the atrophic/cicatricial stage and, usually, it is bilateral and relatively symmetric. While BVMD typically presents bilaterally, it sometimes presents unilaterally (Arora et al, 2016; Kaden et al, 2016). Macular holes can also occur as a severe complication in the end stage of BVMD (Liu et al, 2016).…”

Section: Clinical Spectrum Of the Bestrophinopathiesmentioning

confidence: 99%

Bestrophin 1 and retinal disease

Johnson

Guziewicz

Lee

et al. 2017

Progress in Retinal and Eye Research

198

177

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Mutations in the gene BEST1 are causally associated with as many as five clinically distinct retinal degenerative diseases, which are collectively referred to as the “bestrophinopathies”. These five associated diseases are: Best vitelliform macular dystrophy, autosomal recessive bestrophinopathy, adult-onset vitelliform macular dystrophy, autosomal dominant vitreoretinochoroidopathy, and retinitis pigmentosa. The most common of these is Best vitelliform macular dystrophy. Bestrophin 1 (Best1), the protein encoded by the gene BEST1, has been the subject of a great deal of research since it was first identified nearly two decades ago. Today we know that Best1 functions as both a pentameric anion channel and a regulator of intracellular Ca2+ signaling. Best1 is an integral membrane protein which, within the eye, is uniquely expressed in the retinal pigment epithelium where it predominantly localizes to the basolateral plasma membrane. Within the brain, Best1 expression has been documented in both glial cells and astrocytes where it functions in both tonic GABA release and glutamate transport. The crystal structure of Best1 has revealed critical information about how Best1 functions as an ion channel and how Ca2+ regulates that function. Studies using animal models have led to critical insights into the physiological roles of Best1 and advances in stem cell technology have allowed for the development of patient-derived, “disease in a dish” models. In this article we review our knowledge of Best1 and discuss prospects for near-term clinical trials to test therapies for the bestrophinopathies, a currently incurable and untreatable set of diseases.

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Section: Clinical Spectrum Of the Bestrophinopathiesmentioning

confidence: 99%

Bestrophin 1 and retinal disease

Johnson

Guziewicz

Lee

et al. 2017

Progress in Retinal and Eye Research

198

177

View full text Add to dashboard Cite

show abstract

“…[ 31 ] CNVs are more rare in patients with stage 2–3 disease (up to 13%), and they are frequently exudative, often requiring intravitreal injections of antivascular endothelial growth factor agents. [ 31 ] While typical Best disease is bilateral and unifocal, it can also display atypical features, with unilateral,[ 32 , 33 ] multifocal,[ 34 ] and asymmetrical presentations.…”

Section: T He C Linical S ...mentioning

confidence: 99%

Gene therapy in bestrophinopathies: Insights from preclinical studies in preparation for clinical trials

Amato,

Wongchaisuwat,

Lamborn

et al. 2023

Saudi Journal of Ophthalmology

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The BEST1 gene encodes bestrophin-1, a homopentameric ion channel expressed in the retinal pigment epithelium (RPE), where it localizes to the basolateral plasma membrane. Pathogenic variants in this gene can cause different autosomal dominant and recessive inherited retinal diseases (IRDs), collectively named “bestrophinopathies.” These disorders share a number of clinical and molecular features that make them an appealing target for gene therapy. Clinically, bestrophinopathies are often slowly progressive with a wide window of opportunity, and the presence of subretinal material (vitelliform deposits and/or fluid) as a hallmark of these conditions provides an easily quantifiable endpoint in view of future clinical trials. From a molecular standpoint, most BEST1 pathogenic variants have been shown to cause either loss of function (LOF) of the protein or a dominant-negative (DN) effect, with a smaller subset causing a toxic gain of function (GOF). Both LOF and DN mutations may be amenable to gene augmentation alone. On the other hand, individuals harboring GOF variants would require a combination of gene silencing and gene augmentation, which has been shown to be effective in RPE cells derived from patients with Best disease. In this article, we review the current knowledge of BEST1-related IRDs and we discuss how their molecular and clinical features are being used to design novel and promising therapeutic strategies.

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“…Best Vitelliform Dystrophy, atau Penyakit Best, adalah makulopati dominan autosomal yang disebabkan oleh mutasi pada gen BEST1 (atau VMD2), yang terletak pada kromosom 11 dan mengkodekan protein besttrophin [12,13]. Individu penyakit Best sering menunjukkan lesi makula mirip kuning telur [14]. Studi tentang prevalensi penyakit Best telah terhambat oleh fakta yang ada ekspresifitas variabel dalam keluarga maupun antar keluarga [15].…”

Section: Pendahuluanunclassified

Rancang Bangun Elektrookulogram Untuk Deteksi Dini Penyakit Best Berdasarkan Perhitungan Rasio Arden

Tanowati,

Olla, S.T., M.T.,

Rofi'i, M.Eng

et al. 2023

emitor

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Elektrookulografi adalah suatu teknik untuk merekam sinyal listrik pada mata yang mengubah sinyal biopotensial menjadi sinyal listrik. Pada penelitian ini dirancang prototipe alat diagnostik menggunakan sinyal elektrookulogram (EOG) dengan metode klasifikasi sinyal berdasarkan magnitudo. Sensor yang digunakan adalah elektroda AgCl yang dipasang pada kedua sisi mata. Dalam pengolahan sinyal memanfaatkan proses amplifikasi melalui rangkaian IC OP07CP dengan penguatan 416 kali yang dirangkai dalam modul EOG. Selama dua fase pemeriksaan, sinyal yang ditangkap akan ditampilkan melalui LCD dan Arduino Uno akan melakukan perhitungan rasio Arden. Hasil perhitungan rasio Arden ini digunakan sebagai acuan untuk mendeteksi gangguan mata distrofi makula vitelliform atau biasa disebut penyakit Best. Penyakit ini merupakan masalah genetik dengan kromosom 11 (wilayah q12-q13.1). Pengujian terhadap lebih dari 30 pasien didapatkan hasil yang cukup bervariasi di antara pasien berbagai usia dengan presentase 0,1% individu terindikasi gejala penyakit Best.

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Unilateral Best Disease: A Case Report

Cited by 6 publications

References 16 publications

Bestrophin 1 and retinal disease

Bestrophin 1 and retinal disease

Gene therapy in bestrophinopathies: Insights from preclinical studies in preparation for clinical trials

Rancang Bangun Elektrookulogram Untuk Deteksi Dini Penyakit Best Berdasarkan Perhitungan Rasio Arden

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