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]

• Swelling

  They may have a buildup of pressure inside the eye, reduced vision in one eye, swelling of the eye, problems lining the eyes up with each other, and trouble seeing in color. [diseaseinfosearch.org]

  Some patients with ARB can go on to develop cystoid macular edema (swelling caused by leaky blood vessels and fluid build-up under the retina). [ucl.ac.uk]

• Photophobia

  Macular dystrophy, vitelliform 2 (#153700) Bestrophinopathy, autosomal recessive (#611809) Retinitis pigmentosa 50 (#613194) Vitreoretinoschoroidopathy (#193220) Symptoms Central vision disturbance/loss Metamorphopsia Photophobia Nyctalopia Age of symptom [gene.vision]

  He mainly complained of photophobia. BCVA at that time was 0.5 with +5,75 = −2,25/10° in RE and 0.4 with +5.75 = −1.75 in LE. Full field ERGs were mildly subnormal, while EOG were not performed. [ncbi.nlm.nih.gov]

• 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]

• Dry Eyes

  eye disease for more than 40 years. [medworm.com]

• Eye Swelling

  They may have a buildup of pressure inside the eye, reduced vision in one eye, swelling of the eye, problems lining the eyes up with each other, and trouble seeing in color. [diseaseinfosearch.org]

• Lacrimation

  Source: Ophthalmic Genetics - May 10, 2017 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research Related Links: Authors: Best AL, Labetoulle M, Legrand M, M'garrech M, Barreau E, Rousseau A Abstract Lacrimal occlusion with punctal or canalicular [medworm.com]

• 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]

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]

The diagnosis of this condition can be made clinically by looking at symptoms, and the treatments can vary depending on which symptoms are present. [diseaseinfosearch.org]

[…] in choroidal neovascularization associated with autosomal recessive bestrophinopathy. ( 24459458 ) Madhusudhan S....Sahni J.N. 2013 17 Autosomal recessive bestrophinopathy: differential diagnosis and treatment options. ( 23290749 ) Boon C.J....van Schooneveld [malacards.org]

@article{Boon2013AutosomalRB, title {Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.}, author {Camiel J. F. Boon and L. Ingeborgh van den Born and Linda Visser and Jan E. E. Keunen and Arthur A. B. [semanticscholar.org]

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]

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

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

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]