当前位置： SCI文献检索 > INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE期刊下所有文献 > A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode.

A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode.

Abstract：

PURPOSE:Best disease is a monogenic macular degeneration caused mainly by heterozygous mutations in the BEST1 gene. The objective was to characterize the molecular and clinical features of patients with the classical form of Best disease that is inherited in an autosomal recessive mode. METHODS:Clinical evaluation included detailed family history, a full ophthalmologic examination, electro-oculography (EOG), electroretinography, color vision testing, and ocular imaging. Mutation analysis was performed by direct sequencing of PCR products. RESULTS:Two young siblings affected by Best disease, as confirmed by funduscopy, retinal imaging, and electrophysiologic assessment, were recruited for the study. Molecular analysis revealed a novel homozygous deletion (c.1415delT) in the BEST1 gene leading to a frameshift followed by a premature stop codon, which cosegregated with the disease in a recessive mode. The heterozygous parents had normal visual acuity, retinal appearance, and function. The two heterozygous grandmothers, ages 61 and 62, also had normal Arden ratios on EOG, but one of them manifested moderate-to-severe dry non-neovascular age-related macular degeneration. CONCLUSIONS:We show here that the typical vitelliform phenotype of Best disease, usually transmitted in an autosomal dominant fashion, can be inherited as an autosomal recessive disease due to homozygosity for a frameshift mutation.

journal_name

Invest Ophthalmol Vis Sci

journal_title

Investigative ophthalmology & visual science

authors

Bitner H,Mizrahi-Meissonnier L,Griefner G,Erdinest I,Sharon D,Banin E

doi

10.1167/iovs.11-7174

subject

Has Abstract

pub_date

2011-07-18 00:00:00

pages

5332-8

issue

8

eissn

0146-0404

issn

1552-5783

pii

iovs.11-7174

journal_volume

52

pub_type

杂志文章

相关文献

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE文献大全
  • The Association Between Ocular Rigidity and Neuroretinal Damage in Glaucoma.

    abstract：Purpose:Ocular rigidity (OR) is an important biomechanical property, thought to be relevant in the pathophysiology of open-angle glaucoma (OAG). This study aims to evaluate the relationship between OR and neuroretinal damage caused by glaucoma. Methods:One hundred eight subjects (22 with healthy eyes, 23 with suspect ...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.61.13.11

    authors： Sayah DN,Mazzaferri J,Descovich D,Costantino S,Lesk MR

    更新日期：2020-11-02 00:00:00

  • Characterization of vitamin D production by human ocular barrier cells.

    abstract：PURPOSE:Vitamin D3 is a secosteroid mainly synthesized from the conversion of the skin precursor 7-dehydrocholesterol (7DHC) to vitamin D3 by ultraviolet (UV) B sunlight. Extrarenal synthesis of vitamin D3 has been reported in many tissues and cells, including barrier sites. This study characterizes the expression of c...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.13-13019

    authors： Alsalem JA,Patel D,Susarla R,Coca-Prados M,Bland R,Walker EA,Rauz S,Wallace GR

    更新日期：2014-04-07 00:00:00

  • Insertion of a Pax6 consensus binding site into the alphaA-crystallin promoter acts as a lens epithelial cell enhancer in transgenic mice.

    abstract：PURPOSE:Although the murine alphaA-crystallin promoter is the most commonly used promoter for achieving transgene expression in the developing lens, this promoter directs transgene expression efficiently only in lens fiber cells. The purpose of the present study was to generate promoters capable of directing transgene ...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.03-0856

    authors： Zhao H,Yang Y,Rizo CM,Overbeek PA,Robinson ML

    更新日期：2004-06-01 00:00:00

  • Differential effects of rapamycin on rods and cones during light-induced stress in albino mice.

    abstract：PURPOSE:Autophagy is a lysosomal machinery-dependent process that catabolizes cellular components/organelles and proteins in an autophagic vacuole (AV)-dependent and -independent manner, respectively. Short-term exposure of the retina to bright light results in shortening of the outer segments, concomitant with AV form...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.10-6278

    authors： Kunchithapautham K,Coughlin B,Lemasters JJ,Rohrer B

    更新日期：2011-05-05 00:00:00

  • A simple method for the in vitro culture of human retinal capillary endothelial cells.

    abstract：:A simple method for the culture of human retinal capillary endothelial cells in vitro is described in this report. Through a process of gentle mechanical disruption and sieving, a sufficient yield of retinal microvessels was obtained from one or two human eyes to allow the culture of endothelial cells in abundance. Th...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Su T,Gillies MC

    更新日期：1992-09-01 00:00:00

  • Developmental changes in conjunctiva-associated lymphoid tissue of the rabbit.

    abstract：PURPOSE:Organized conjunctiva-associated lymphoid tissue (O-CALT) is constantly exposed to environmental antigens and plays a central role in the common mucosal immune system. This study was undertaken to investigate whether O-CALT in rabbit lymphoid tissue, as in other lymphoid tissue in other mammals, changes with ag...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.07-0856

    authors： Cain C,Phillips TE

    更新日期：2008-02-01 00:00:00

  • Vulnerability of Dopaminergic Amacrine Cells to Chronic Ischemia in a Mouse Model of Oxygen-Induced Retinopathy.

    abstract：PURPOSE:Retinal dopamine deficiency is a potential cause of myopia and visual deficits in retinopathy of prematurity (ROP). We investigated the cellular mechanisms responsible for lowered levels of retinal dopamine in an oxygen-induced retinopathy (OIR) mouse model of ROP. METHODS:Retinopathy was induced by exposing m...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.16-19346

    authors： Spix NJ,Liu LL,Zhang Z,Hohlbein JP,Prigge CL,Chintala S,Ribelayga CP,Zhang DQ

    更新日期：2016-06-01 00:00:00

  • Mechanisms of mitotic inhibition in corneal endothelium: contact inhibition and TGF-beta2.

    abstract：PURPOSE:Contact inhibition has been implicated as an important antiproliferative mechanism in developing and mature corneal endothelium. Although exogenous TGF-beta2 and TGF-beta2 in aqueous humor suppress S-phase entry in cultured rat corneal endothelial cells, it is not known whether TGF-beta2 contributes to the mito...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Joyce NC,Harris DL,Mello DM

    更新日期：2002-07-01 00:00:00

  • Sympathetic inhibition of accommodation after sustained nearwork in subjects with myopia and emmetropia.

    abstract：PURPOSE:The purposes of the present study were to assess the effect of a sympathetic inhibitory pharmacologic agent, timolol maleate, on the magnitude of nearwork-induced transient myopia (NITM) and its decay in different refractive groups for an extended near task duration and to determine the proportion of the young ...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.08-1762

    authors： Vasudevan B,Ciuffreda KJ,Gilmartin B

    更新日期：2009-01-01 00:00:00

  • Trabecular meshwork glycosaminoglycans in human and cynomolgus monkey eye.

    abstract：:The glycosaminoglycans (GAGs) extractable from the trabecular meshworks (TM) of human and non-human primate eye have been analyzed by sequential enzymatic degradation and cellulose acetate electrophoresis. For comparison, similar extracts of the cornea, sclera, iris, and ciliary body have also been analyzed. The distr...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Acott TS,Westcott M,Passo MS,Van Buskirk EM

    更新日期：1985-10-01 00:00:00

  • Antianaphylactic effects of dipivalyl epinephrine and related compounds in rat conjunctiva.

    abstract：:Topically applied dipivalyl epinephrine (DPE) and related compounds have been found to inhibit passive anaphylactic reaction in rat conjunctiva. The order of activity is as follows: isoproterenol greater than DPE greater than epinephrine greater than norepinephrine. The antianaphylactic effect of DPE was antagonized b...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Iso T,Uda K,Yamauchi H,Nakajima N,Suda H

    更新日期：1980-07-01 00:00:00

  • Light and electron microscopy of the anterior chamber angle structures following surgical disinsertion of the ciliary muscle in the cynomolgus monkey.

    abstract：:Light and electron microscopic studies were done on 11 cynomolgus monkey eyes which had undergone total iris removal followed by surgical disinsertion of the ciliary muscle from the scleral spur 4.7 to 14.4 months earlier. Anterior chamber perfusion to measure gross outflow facility had been performed one to nine time...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Lütjen-Drecoll E,Kaufman PL,Bárány EH

    更新日期：1977-03-01 00:00:00

  • Involvement of the Erk-MAP kinase pathway in TNFalpha regulation of trabecular matrix metalloproteinases and TIMPs.

    abstract：PURPOSE:TNFalpha is a strong modulator expression of trabecular meshwork (TM) matrix metalloproteinase (MMP) and tissue inhibitor (TIMP). Laser trabeculoplasty appears to rely on this process to restore normal aqueous humor outflow facility. Thus, studies were conducted to determine whether the extracellular signal-reg...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.01-1201

    authors： Alexander JP,Acott TS

    更新日期：2003-01-01 00:00:00

  • A comparison of HLA genotype with inflammation in uveal melanoma.

    abstract：PURPOSE:Human leukocyte antigen (HLA) polymorphisms have been associated with the development of autoimmune diseases. In uveal melanoma, a high expression of HLA classes I and II, and infiltration with lymphocytes and macrophages are associated with a bad prognosis. Inflammation has an important role in this malignancy...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.11-8901

    authors： van Essen TH,Bronkhorst IH,Maat W,Verduyn W,Roelen DL,Luyten GP,Jager MJ

    更新日期：2012-05-04 00:00:00

  • Quantitative assessment of ultrastructure and light scatter in mouse corneal debridement wounds.

    abstract：PURPOSE:The mouse has become an important wound healing model with which to study corneal fibrosis, a frequent complication of refractive surgery. The aim of the current study was to quantify changes in stromal ultrastructure and light scatter that characterize fibrosis in mouse corneal debridement wounds. METHODS:Epi...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.11-9305

    authors： Boote C,Du Y,Morgan S,Harris J,Kamma-Lorger CS,Hayes S,Lathrop KL,Roh DS,Burrow MK,Hiller J,Terrill NJ,Funderburgh JL,Meek KM

    更新日期：2012-05-14 00:00:00

  • Alteration of mucin in human conjunctival epithelia in dry eye.

    abstract：PURPOSE:The objective of this study was to determine whether alteration in mucins could be detected in patients with dry eye symptoms by using the monoclonal antibody H185, which recognizes carbohydrate epitopes on mucin molecules. METHODS:Immunohistochemistry and immunoelectron microscopy was used to examine binding ...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Danjo Y,Watanabe H,Tisdale AS,George M,Tsumura T,Abelson MB,Gipson IK

    更新日期：1998-12-01 00:00:00

  • Vitreous induces components of the prostaglandin E2 pathway in human retinal pigment epithelial cells.

    abstract：PURPOSE:To investigate the alterations in gene expression when human retinal pigment epithelial (RPE) cells in culture are treated with vitreous as a model for the changes that occur in proliferative vitreoretinopathy. METHODS:Human RPE cells were cultured with or without human vitreous or collagen. RNA was extracted ...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.02-0528

    authors： Parapuram SK,Ganti R,Hunt RC,Hunt DM

    更新日期：2003-04-01 00:00:00

  • Effect of protease inhibitors on corneal epithelial migration.

    abstract：:Recently protease inhibitors were used to treat corneal ulceration and persistent epithelial defect. An organ culture system was used in this study to examine the effect of four protease inhibitors on rat corneal epithelial migration and on incorporation of 3H-leucine into trichloroacetic acid-precipitable material as...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Zieske JD,Bukusoglu G

    更新日期：1991-06-01 00:00:00

  • A mouse model for Sorsby fundus dystrophy.

    abstract：PURPOSE:Sorsby fundus dystrophy (SFD) is a rare, late-onset macular dystrophy caused by mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) gene. The known mutations introduce potentially unpaired cysteine residues in the C terminus of the protein and result in the formation of higher-molecular-weight pro...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Weber BH,Lin B,White K,Kohler K,Soboleva G,Herterich S,Seeliger MW,Jaissle GB,Grimm C,Reme C,Wenzel A,Asan E,Schrewe H

    更新日期：2002-08-01 00:00:00

  • Prevention of ornithine cytotoxicity by proline in human retinal pigment epithelial cells.

    abstract：PURPOSE:To investigate the relationship between ornithine-delta-aminotransferase (OAT) deficiency and ornithine accumulation and the specific degeneration of retinal pigment epithelial (RPE) cells in gyrate atrophy. METHODS:Human RPE cells, human hepatoma cells, and human fibroblast cells were treated with 5-fluoromet...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Ueda M,Masu Y,Ando A,Maeda H,Del Monte MA,Uyama M,Ito S

    更新日期：1998-04-01 00:00:00

  • Effect of acute intraocular pressure challenge on rat retinal and cortical function.

    abstract：PURPOSE:The global or gross response index of visual performance measured from the eye does not necessarily translate to global responses measured from the brain. A better understanding of this relationship would facilitate the monitoring of disease models that affect the visual pathway. We consider whether rod- and co...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.13-13003

    authors： Tsai TI,Bui BV,Vingrys AJ

    更新日期：2014-02-20 00:00:00

  • Dynamic interactions of eye and head movements when reading with single-vision and progressive lenses in a simulated computer-based environment.

    abstract：PURPOSE:To assess dynamic interactions of eye and head movements during return-sweep saccades (RSS) when reading with single-vision (SVL) versus progressive-addition (PAL) lenses in a simulated computer-based business environment. METHODS:Horizontal eye and head movements were recorded objectively and simultaneously a...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.02-0507

    authors： Han Y,Ciuffreda KJ,Selenow A,Ali SR

    更新日期：2003-04-01 00:00:00

  • Dark-adapted sensitivity, rhodopsin content, and background adaptation in pcd/pcd mice.

    abstract：:Adaptation to steady background lights has been investigated in pcd/pcd mice, a mutant strain with retinal degeneration. The hyperbolic stimulus/response functions of the scotopic b-wave of the electroretinogram show progressive changes. For the dark-adapted eyes the decrease in log sensitivity between ages 1 and 12 m...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Fulton AB,Manning KA,Baker BN,Schukar SE,Bailey CJ

    更新日期：1982-03-01 00:00:00

  • Decreased corneal sensitivity in patients with dry eye.

    abstract：PURPOSE:To explore changes in corneal sensitivity that develop in patients with dry eye and the relationship between sensibility and severity of the dry eye disease. METHODS:Experiments were performed in 44 patients with dry eye and 42 healthy individuals. Corneal sensitivity was measured with the Belmonte noncontact ...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.04-1426

    authors： Bourcier T,Acosta MC,Borderie V,Borrás F,Gallar J,Bury T,Laroche L,Belmonte C

    更新日期：2005-07-01 00:00:00

  • Leakage of aquaporin 5 in the tear of dacryoadenitis mice.

    abstract：PURPOSE:The objective of this study was to investigate whether leakage of aquaporin 5 (AQP5) in tear is associated with damage of lacrimal glands (LGs) in dacryoadenitis models. METHODS:Female MRL/lpr (24-week-old), male NOD/Shi Jci (5-, 8-, and 10-week-old), female NFS/s-TX (10-week-old), and lipopolysaccharide (LPS)...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Hirai S,Ishida N,Watanabe K,Mita S

    更新日期：2000-08-01 00:00:00

  • Role of swarming migration in the pathogenesis of bacillus endophthalmitis.

    abstract：PURPOSE:Bacillus cereus causes one of the most rapidly blinding forms of bacterial endophthalmitis. Migration of B. cereus throughout the eye during endophthalmitis is a unique aspect of this disease that may contribute to intraocular virulence. This study was conducted to analyze the contribution of swarming and intra...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.06-0301

    authors： Callegan MC,Novosad BD,Ramirez R,Ghelardi E,Senesi S

    更新日期：2006-10-01 00:00:00

  • Tear film osmolarity: determination of a referent for dry eye diagnosis.

    abstract：PURPOSE:To determine new referents, or cutoff levels for tear film hyperosmolarity in the diagnosis of keratoconjunctivitis sicca (KCS) and to assess their effectiveness in independent patient groups. METHOD:A meta-analysis was performed on published data for tear osmolarity in samples of normal eyes and various subty...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章,meta分析

    doi：10.1167/iovs.05-1504

    authors： Tomlinson A,Khanal S,Ramaesh K,Diaper C,McFadyen A

    更新日期：2006-10-01 00:00:00

  • Retinal cell responses to elevated intraocular pressure: a gene array comparison between the whole retina and retinal ganglion cell layer.

    abstract：PURPOSE:To determine and compare gene expression patterns in the whole retina and retinal ganglion cell layer (RGCL) in a rodent glaucoma model. METHODS:IOP was unilaterally elevated in Brown Norway rats (N = 26) by injection of hypertonic saline and monitored for 5 weeks. A cDNA microarray was used on whole retinas f...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.09-4663

    authors： Guo Y,Cepurna WO,Dyck JA,Doser TA,Johnson EC,Morrison JC

    更新日期：2010-06-01 00:00:00

  • Performance on the Farnsworth-Munsell 100-Hue Test Is Significantly Related to Nonverbal IQ.

    abstract：PURPOSE:The Farnsworth-Munsell 100-Hue test (FM100) is a standardized measure of chromatic discrimination, based on colored cap-sorting, which has been widely used in both adults and children. Its dependence on seriation ability raises questions as to its universal suitability and accuracy in assessing purely sensory d...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.14-16094

    authors： Cranwell MB,Pearce B,Loveridge C,Hurlbert AC

    更新日期：2015-05-01 00:00:00

  • Pharmacokinetics of intravitreal carbenicillin, cefazolin, and gentamicin in rhesus monkeys.

    abstract：:Although intravitreal injection of antibiotics is being used more widely in treatment of bacterial endophthalmitis, the pharmacokinetic principles that underlie such therapy have been derived exclusively from experiments in the rabbit. Therefore, we studied several representative antibiotics in normal eyes of rhesus m...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Barza M,Kane A,Baum J

    更新日期：1983-12-01 00:00:00