The parents and the sister, who were heterozygous mutation carriers, presented with normal ophthalmological function. ARB is a rare retinal disorder. [ncbi.nlm.nih.gov]

Data are presented as mean ± SEM. [iovs.arvojournals.org]

ARB has been noted to have a variable phenotypic presentation, distinct from that of autosomal dominant Best vitelliform macular dystrophy (BVMD). [research-repository.uwa.edu.au]

• Retinal Pigmentation

  The gene encodes bestrophin-1 (Best1), a homo-oligomeric, integral membrane protein localized to the basolateral plasma membrane of the retinal pigment epithelium (RPE). [mayoclinic.org]

  Two unrelated patients with diagnoses of ARB showed retinal pigment epithelial disturbances and abnormal ERGs. Each patient was homozygous for a novel BEST1 mutation, c.521_522del and c.1100+1G>A. A carrier sibling (WT/c.521_522del) was unaffected. [ncbi.nlm.nih.gov]

  Prog Retin Eye Res 3:187–205 CrossRef 11. Davidson AE, Millar ID, Urquhart JE, Burgess-Mullan R, Shweikh Y, Parry N et al (2009) Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. [springermedizin.de]

• Small Eyes

  In addition to small eyes, reduced axial length and hyperopia, it is increasingly recognised that bestrophinopathies are also strongly associated with anterior segment abnormalities and a high incidence of narrow-angle glaucoma [ 9, 10, 13, 14, 20, 22 [link.springer.com]

• Retinal Cyst

  (E,F) OCT with hyperreflective macular subretinal deposits with intra-retinal cysts. [ncbi.nlm.nih.gov]

• Suggestibility

  The patient presented with an Arden ratio of 1.25, an unremarkable ERG and fluorescent yellow deposits distributed throughout the fundus suggestive of autosomal recessive bestrophinopathy (ARB). [ncbi.nlm.nih.gov]

  Moreover, Best1 I366fsX18 differs from Best1 in that it lacks most of the cytosolic C-terminal domain, suggesting that the loss of this region contributes significantly to the pathogenesis of ARB in this patient. [mayoclinic.pure.elsevier.com]

  Three novel mutations were detected.Conclusion: Three novel BEST1 mutations are described, suggesting that many deleterious variants in BEST1 resulting in haploinsufficiency are still unknown. [researchers.mq.edu.au]

That’s a limitation of our workup. The mutations of BEST1 can cause various clinical features [1]. [bmcmedgenet.biomedcentral.com]

• Electroretinogram Abnormal

  abnormalities to the lesion site: findings in a family with Best disease. 25 Glybina IV...Frank RN 17102007 2006 42 A novel mutation of the VMD2 gene in a Chinese family with best vitelliform macular dystrophy. 25 Li Y...Zhang K 16865191 2006 43 Novel [malacards.org]

  Localization of multifocal electroretinogram abnormalities to the lesion site: findings in a family with Best disease. Arch Ophthalmol. 2006 Nov. 124(11):1593-600. [Medline]. Patrinely JR, Lewis RA, Font RL. [emedicine.medscape.com]

  Localization of multifocal electroretinogram abnormalities to the lesion site: findings in a family with Best disease. Arch Ophthalmol. 2006;124:1593–600. [PubMed: 17102007] Hartzell HC, Qu Z, Yu K, Xiao Q, Chien LT. [www-ncbi-nlm-nih-gov.ezproxy.u-pec.fr]

Response to treatment was documented on optical coherence tomography angiography (OCTA). Despite initial response to treatment, recurrent CNV exudation with progressive subretinal fibrosis was observed. [ncbi.nlm.nih.gov]

Therefore, current OCT-driven treatment protocols applicable to neovascular age-related macular degeneration,(6,7) advocating treatment until complete resolution of fluid is achieved may not be appropriate in CNV associated with causes other than AMD. [djo.harvard.edu]

Treatment Centers Edit Please add treatment centers available. Include contacts. Link any mentions you make to the online source if available. [wikicure.wikia.com]

Put the very latest scientific and genetic discoveries, diagnostic imaging methods, drug therapies, treatment recommendations, and surgical techniques to work in your practice. [books.google.com]

Glaucoma can be treated using eye drops during the early stages, and with laser treatment or surgery in later stages. Research into treatments for ARB is ongoing. [ucl.ac.uk]

Generally the prognosis is good. However, often the retina does become thin in the central affected area, and the sight may get slightly worse with age as the retina thins. [goodhopeeyeclinic.org.uk]

Genetic testing also makes it possible to estimate the prognosis of the disease (i.e. how it will evolve), which directly influences patient expectations and, especially, their treatment, and, finally, to offer prenatal diagnosis. [imo.es]

This disease tends to present itself in childhood or early adulthood and usually portends a good visual prognosis. [eyewiki.aao.org]

Appropriate therapies like drug treatment and gene therapy to achieve a better prognosis for bestrophinopathy have been explored for decades [10]. [hindawi.com]

A molecular diagnosis can help facilitate genetic counselling, provide accurate advice on prognosis and future family planning, and aid in clinical trial participation. [gene.vision]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Etiology Best vitelliform dystrophy is inherited in an autosomal dominant pattern, with diminished penetrance and a highly variable expression. [eyewiki.aao.org]

These tests are advantageous for screening neonates as they demonstrate high sensitivity, can be run on dried blood spots, and proenzyme levels are altered regardless of the specific etiologic genetic alteration. [docksci.com]

We aimed to explore the disease-associated genomic and metabolic feature in order to better understand the etiology of ARB and provide a potential intervention strategy. [bmcmedgenet.biomedcentral.com]

Offers the most comprehensive content available on retina, balancing the latest scientific research and clinical correlations, covering everything you need to know on retinal diagnosis, treatment, development, structure, function, and pathophysiology. [books.google.com]

General Pathology and Pathophysiology Currently, it is believed that Best disease represents a primary disturbance of the RPE. [eyewiki.aao.org]

The CFTR channel exists in many other tissues as well; however, the effects on the lungs and digestive tract become most clinically apparent in an affected patient.1 Describe the Pathophysiologic Process that Occurs in the Lungs of Patients with Severe [docksci.com]

Currently, patients with bestrophinopaties, such as ARB, do not have any available treatments and loss of vision cannot be prevented. [discovery.ucl.ac.uk]

Individuals with this condition should receive regular eye examinations to help prevent the development of symptoms as much as possible. [diseaseinfosearch.org]

Blindenhulp, Gelderse Blinden Stichting, Landelijke Stichting voor Blinden en Slechtzienden and grants from the National Eye Institute/NIH EY021163, EY019861, EY018213, EY019007 (Core Support for Vision Research), and unrestricted funds from Research to Prevent [journals.lww.com]

Here are several ways prevention can help preserve our precious eyesight: 1. Regular... [macularhope.org]