The 11-year old asymptomatic boy showed a well-demarcated retinopathy with deposits. [ncbi.nlm.nih.gov]

The 11-year old asymptomatic boy showed a well-demarcated ... [octnews.org]

Heterozygous carriers were asymptomatic. A missense or nonsense sequence variation was found in 15/16 patient alleles and these were absent in 210 control chromosomes. [iovs.arvojournals.org]

It also makes it possible to warn asymptomatic family members, who can pass the disease on without suffering from symptoms. [imo.es]

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]

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]

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

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]

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]

As the disease progresses, patients may experience a slow, bilateral decrease in visual acuity, central scotoma, or metamorphosia. With secondary CNV, visual decline can be rapid, however. [eyewiki.aao.org]

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]

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]

As the disease progresses, patients may experience a slow, bilateral decrease in visual acuity, central scotoma, or metamorphosia. With secondary CNV, visual decline can be rapid, however. [eyewiki.aao.org]