当前位置： SCI文献检索 > INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE期刊下所有文献 > Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.

Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.

Abstract：

PURPOSE:To unravel the molecular genetic background in families with congenital cataract in association with microcornea (CCMC, OMIM 116150). METHODS:CCMC families were recruited from a national database on hereditary eye diseases; DNA was procured from a national gene bank on hereditary eye diseases and by blood sampling from one large family. Genomewide linkage analysis, fine mapping, and direct genomic DNA sequencing of nine cataract candidate genes were applied. Restriction enzyme digests confirmed identified mutations. RESULTS:Analyses of 10 Danish families with hereditary congenital cataract and microcornea revealed five novel mutations. Three of these affected the crystallin, alpha-A gene (CRYAA), including two mutations (R12C and R21W) in the crystallin domain and one mutation (R116H) in the small heat shock domain. One mutation (P189L) affected the gap junction protein alpha 8 (GJA8), and one mutation (Y134X) was detected in crystallin gamma-D (CRYGD). CONCLUSIONS:The identification of a CRYGD mutation adds another gene to those that may be mutated in CCMC and underscores the genetic heterogeneity of this condition. Three CRYAA mutations at the R116 position, in association with CCMC, suggest that R116 represents a CCMC-mutational hotspot. The CCMC phenotype demonstrates variable expression with regard to cataract morphology and age of appearance. Clinical heterogeneity, including additional malformation of the anterior segment of the eye, confirm that dedicated cataract genes may be involved in the largely unknown developmental molecular mechanisms involved in lens-anterior segment interactions.

journal_name

Invest Ophthalmol Vis Sci

journal_title

Investigative ophthalmology & visual science

authors

Hansen L,Yao W,Eiberg H,Kjaer KW,Baggesen K,Hejtmancik JF,Rosenberg T

doi

10.1167/iovs.07-0013

subject

Has Abstract

pub_date

2007-09-01 00:00:00

pages

3937-44

issue

9

eissn

0146-0404

issn

1552-5783

pii

48/9/3937

journal_volume

48

pub_type

杂志文章

相关文献

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE文献大全
  • Serum elastin-derived peptides in age-related macular degeneration.

    abstract：PURPOSE:Dysregulation of the extracellular matrix (ECM) plays an important role in the pathogenesis of age-related macular degeneration (AMD). Elastin is a fibrous protein constituent of the ECM, degradation of which may be detected by the presence of serum elastin-derived peptides (S-EDPs) in circulation. This study w...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.04-1277

    authors： Sivaprasad S,Chong NV,Bailey TA

    更新日期：2005-09-01 00:00:00

  • ATP-induced photoreceptor death in a feline model of retinal degeneration.

    abstract：PURPOSE:To develop and characterize a feline model of retinal degeneration induced by intravitreal injection of adenosine triphosphate (ATP). METHODS:Nineteen normally sighted adult cats received 100 μL intravitreal injections of ATP with a final concentration of 11, 22, or 55 mM at the retina. Four animals were eutha...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.14-15732

    authors： Aplin FP,Luu CD,Vessey KA,Guymer RH,Shepherd RK,Fletcher EL

    更新日期：2014-11-25 00:00:00

  • Functional redundancy of R7 RGS proteins in ON-bipolar cell dendrites.

    abstract：PURPOSE:In the Gbeta5(-/-) mouse, the electroretinogram (ERG) b-wave is absent, and the R7 subfamily of regulators of G protein signaling (RGS), which includes RGS6, -7, -9, and -11, is downregulated. Mutant mouse strains deficient in RGS7 or -11 were characterized, and the SG711 strain which is deficient in both prote...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.09-4084

    authors： Chen FS,Shim H,Morhardt D,Dallman R,Krahn E,McWhinney L,Rao A,Gold SJ,Chen CK

    更新日期：2010-02-01 00:00:00

  • High-resolution imaging of photoreceptors in macular microholes.

    abstract：PURPOSE:To assess photoreceptor structure in macular microholes by using adaptive optics scanning laser ophthalmoscopy (AO-SLO) and spectral-domain optical coherence tomography (SD-OCT) and compare with visual acuity. METHODS:Fourteen eyes from 12 patients with macular microholes underwent a full ophthalmologic examin...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.13-13792

    authors： Ooto S,Hangai M,Takayama K,Ueda-Arakawa N,Makiyama Y,Hanebuchi M,Yoshimura N

    更新日期：2014-08-21 00:00:00

  • Human macula investigated in vivo with polarization-sensitive optical coherence tomography.

    abstract：PURPOSE:To investigate a depolarizing layer that is visible in polarization-sensitive optical coherence tomography (PS-OCT) images of the retina. To identify this layer and characterize its depolarizing effect quantitatively. METHODS:Ten healthy human subjects (mean age, 31 +/- 8 years) and two patients with RPE disea...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.05-1589

    authors： Pircher M,Götzinger E,Findl O,Michels S,Geitzenauer W,Leydolt C,Schmidt-Erfurth U,Hitzenberger CK

    更新日期：2006-12-01 00:00:00

  • Degradation of Visual Performance With Increasing Levels of Retinal Stray Light.

    abstract：Purpose:To quantify the effect of induced stray light on halo size, luminance threshold, and contrast sensitivity. Methods:Retinal stray light was induced in five healthy subjects using different photographic filters. The stray light induced ranged from levels observed in intraocular lenses (IOLs) with glistenings (lo...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.15-18514

    authors： van der Mooren M,Rosén R,Franssen L,Lundström L,Piers P

    更新日期：2016-10-01 00:00:00

  • Quantification of ischemic damage in the rat retina: a comparative study using evoked potentials, electroretinography, and histology.

    abstract：PURPOSE:To identify objective criteria to quantify visual function in the rat for developing therapeutic strategies to protect neuronal cells after ischemia. The impact of ocular ischemia on luminance and frequency-modulated contrast vision was compared with the function of outer retinal cells and the number of intact ...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.07-1050

    authors： Jehle T,Wingert K,Dimitriu C,Meschede W,Lasseck J,Bach M,Lagrèze WA

    更新日期：2008-03-01 00:00:00

  • Cone differentiation with no photopigment coexpression.

    abstract：PURPOSE:To decide whether the transitory coexpression of cone visual pigments described in the developing rat and gerbil retina is a universal feature of dichromatic mammalian species. METHODS:The rabbit, a species widely used in eye research, was selected for the study and a search made for the presence of cones that...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Szepessy Z,Lukáts A,Fekete T,Barsi A,Röhlich P,Szél A

    更新日期：2000-09-01 00:00:00

  • Ocular toxoplasmosis in immunosuppressed nonhuman primates.

    abstract：:To investigate the role of cellular immunodeficiency in recurrent toxoplasmic retinochoroiditis, six Cynomolgus monkeys (Macaca fascicularis) with healed toxoplasmic lesions of the retina were immunosuppressed by total lymphoid irradiation. Three months prior to irradiation 30,000 Toxoplasma gondii organisms of the Be...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Holland GN,O'Connor GR,Diaz RF,Minasi P,Wara WM

    更新日期：1988-06-01 00:00:00

  • Improved interpretation of flow maps obtained by scanning laser Doppler flowmetry using a rat model of retinal artery occlusion.

    abstract：PURPOSE:To improve the interpretation of Heidelberg Retina Flowmeter (HRF; Heidelberg Engineering GmBH, Dosselheim, Germany) flow maps by examining the influence of specific vascular structures and focus depth in the presence and absence of retinal blood flow. METHODS:HRF flow maps were recorded from the inferior reti...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.04-0772

    authors： Yu DY,Townsend R,Cringle SJ,Chauhan BC,Morgan WH

    更新日期：2005-01-01 00:00:00

  • Presence of nerves and their receptors in mouse and human conjunctival goblet cells.

    abstract：PURPOSE:To determine whether neural pathways for controlling goblet cell secretion are present in mouse and human conjunctiva. METHODS:Mouse conjunctiva was homogenized and subjected to electrophoresis and Western blotting to detect PGP 9.5 (indicates nerves), muscarinic receptor subtypes (indicates parasympathetic pa...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Diebold Y,Ríos JD,Hodges RR,Rawe I,Dartt DA

    更新日期：2001-09-01 00:00:00

  • Long-term Characterization of Retinal Degeneration in Royal College of Surgeons Rats Using Spectral-Domain Optical Coherence Tomography.

    abstract：Purpose:Prospective treatments for age-related macular degeneration and inherited retinal degenerations are commonly evaluated in the Royal College of Surgeons (RCS) rat before translation into clinical application. Historically, retinal thickness obtained through postmortem anatomic assessments has been a key outcome ...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.16-20363

    authors： Ryals RC,Andrews MD,Datta S,Coyner AS,Fischer CM,Wen Y,Pennesi ME,McGill TJ

    更新日期：2017-03-01 00:00:00

  • Biomechanical Responses of Lamina Cribrosa to Intraocular Pressure Change Assessed by Optical Coherence Tomography in Glaucoma Eyes.

    abstract：Purpose:The purpose of this study was to measure change in anterior lamina cribrosa depth (ALD) globally and regionally in glaucoma eyes at different intraocular pressures (IOP). Methods:Twenty-seven glaucoma patients were imaged before and after IOP-lowering procedures using optical coherence tomography. The anterior...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.16-21321

    authors： Quigley H,Arora K,Idrees S,Solano F,Bedrood S,Lee C,Jefferys J,Nguyen TD

    更新日期：2017-05-01 00:00:00

  • Thy-1 Regulates VEGF-Mediated Choroidal Endothelial Cell Activation and Migration: Implications in Neovascular Age-Related Macular Degeneration.

    abstract：Purpose:This study addresses the hypothesis that age-related stresses upregulate Thy-1 in choroidal endothelial cells (CECs) and contribute to CEC activation and migration, processes important in choroidal neovascularization (CNV). Methods:Measurements were made of Thy-1 protein (Western blot) in CECs and Thy-1 mRNA (...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.16-19691

    authors： Wang H,Han X,Kunz E,Hartnett ME

    更新日期：2016-10-01 00:00:00

  • Enzymatic degradation identifies components responsible for the structural properties of the vitreous body.

    abstract：PURPOSE:Vitreous degeneration contributes to several age-related eye diseases, including retinal detachment, macular hole, macular traction syndrome, and nuclear cataracts. Remarkably little is understood about the molecular interactions responsible for maintaining vitreous structure. The purpose of this study was to m...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.13-13026

    authors： Filas BA,Zhang Q,Okamoto RJ,Shui YB,Beebe DC

    更新日期：2014-01-03 00:00:00

  • Do Intense Perimetric Stimuli Saturate the Healthy Visual System?

    abstract：Purpose:A recent proposal for why glaucomatous perimetric sensitivities of approximately 15 to 19 dB or less are unreliable involves the idea that the neural response of normal retinal ganglion cells saturates for intense perimetric stimuli. A predicted consequence of this saturation is that the neural response for two...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.16-20004

    authors： Anderson AJ,McKendrick AM,Turpin A

    更新日期：2016-11-01 00:00:00

  • Single choroideremia gene in nonmammalian vertebrates explains early embryonic lethality of the zebrafish model of choroideremia.

    abstract：PURPOSE:Mutations of the CHM gene underlie the X-linked chorioretinal degeneration choroideremia (CHM). The affected gene product, Rab Escort Protein (REP)1, mediates the posttranslational prenyl modification of Rab GTPases. In patients with CHM, the related REP2 partially compensates for the loss of function of REP1. ...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.08-2755

    authors： Moosajee M,Tulloch M,Baron RA,Gregory-Evans CY,Pereira-Leal JB,Seabra MC

    更新日期：2009-06-01 00:00:00

  • Size threshold perimetry performs as well as conventional automated perimetry with stimulus sizes III, V, and VI for glaucomatous loss.

    abstract：PURPOSE:It is thought that large perimetric stimuli are insensitive for demonstrating visual field defects. To test the hypothesis that there is no difference in the total number of abnormal test locations with total deviation empiric probability plots in glaucoma patients, we compared results of glaucoma patients test...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.12-11300

    authors： Wall M,Doyle CK,Eden T,Zamba KD,Johnson CA

    更新日期：2013-06-07 00:00:00

  • Corneal hydration control in diabetes mellitus.

    abstract：PURPOSE:To assess the effects of diabetes mellitus on corneal structure and function. METHODS:The authors measured endothelial permeability to fluorescein and corneal deswelling for 7.5 hours after 2 hours of hypoxic contact lens wear in 20 patients with diabetes who had nonproliferative retinopathy and 21 age-matched...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Weston BC,Bourne WM,Polse KA,Hodge DO

    更新日期：1995-03-01 00:00:00

  • IGF-1 Regulates the Extracellular Level of Active MMP-2 and Promotes Müller Glial Cell Motility.

    abstract：PURPOSE:In ischemic proliferative retinopathies, Müller glial cells (MGCs) acquire migratory abilities. However, the mechanisms that regulate this migration remain poorly understood. In addition, proliferative disorders associated with enhanced activities of matrix metalloproteinases (MMPs) also involve insulin-like gr...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.15-17496

    authors： Lorenc VE,Jaldín-Fincati JR,Luna JD,Chiabrando GA,Sánchez MC

    更新日期：2015-10-01 00:00:00

  • Amplitude increase of the multifocal electroretinogram during light adaptation.

    abstract：PURPOSE:To determine using the multifocal ERG technique whether there are any regional differences in the increase in the amplitude of cone electroretinograms (ERGs) during light adaptation. METHODS:Multifocal ERGs were recorded with the Visual Evoked Response Imaging System from five normal subjects. Thirty-seven hex...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Kondo M,Miyake Y,Piao CH,Tanikawa A,Horiguchi M,Terasaki H

    更新日期：1999-10-01 00:00:00

  • Effect of glial cell line-derived neurotrophic factor on retinal function after experimental branch retinal vein occlusion.

    abstract：PURPOSE:The objective of the study was to investigate the effect of glial cell line-derived neurotrophic factor (GDNF) on the multifocal electroretinogram (mfERG) following an induced branch retinal vein occlusion (BRVO) in pigs. METHODS:Electrophysiological examination of the retina was performed in 20 pigs with stan...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.12-10110

    authors： Ejstrup R,Cour Ml,Kyhn MV,Heegaard S,Kiilgaard JF

    更新日期：2012-09-14 00:00:00

  • Retinal and Choroidal Microvasculature in Nonarteritic Anterior Ischemic Optic Neuropathy: An Optical Coherence Tomography Angiography Study.

    abstract：Purpose:To analyze retinal and choroidal microvasculature in patients with nonarteritic anterior ischemic optic neuropathy (NAION) by using optical coherence tomography angiography (OCT-A). Methods:In this case-control retrospective observational study, patients with atrophic NAION (at least 3 months after onset of sy...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.17-22996

    authors： Augstburger E,Zéboulon P,Keilani C,Baudouin C,Labbé A

    更新日期：2018-02-01 00:00:00

  • Racial Differences in the Association of Anterior Lamina Cribrosa Surface Depth and Glaucoma Severity in the African Descent and Glaucoma Evaluation Study (ADAGES).

    abstract：Purpose:To determine if variation in anterior lamina cribrosa surface depth (ALCSD) differs between glaucoma patients of African (AD) and European descent (ED). Methods:A total of 178 eyes from 123 glaucoma patients in the African Descent and Glaucoma Evaluation Study (ADAGES) and Diagnostic Innovations in Glaucoma St...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.19-26645

    authors： Girkin CA,Fazio MA,Bowd C,Medeiros FA,Weinreb RN,Liebmann JM,Proudfoot J,Zangwill LM,Belghith A

    更新日期：2019-10-01 00:00:00

  • Biological response in various compartments of the rat lens after in vivo exposure to UVR-B analyzed by HR-MAS 1H NMR spectroscopy.

    abstract：PURPOSE:The purpose of the present study was to investigate metabolic changes in different compartments of the rat lens (anterior, nuclear, posterior, and equatorial) after exposure to an acute double threshold dose of ultraviolet-B radiation (UVR-B) by using high-resolution magic angle spinning (HR-MAS) (1)H nuclear m...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.05-1633

    authors： Tessem MB,Bathen TF,Löfgren S,Saether O,Mody V,Meyer L,Dong X,Söderberg PG,Midelfart A

    更新日期：2006-12-01 00:00:00

  • Functional changes in the retina during and after acute intraocular pressure elevation in mice.

    abstract：PURPOSE:To examine retinal function using the full-field electroretinogram (ERG) during and after acute intraocular pressure (IOP) elevation in wild-type mice. METHODS:IOP was elevated by anterior chamber cannulation in wild-type C57/BL6 mice. The pressure-function relationship was determined by IOP elevation in steps...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.09-3814

    authors： Kong YX,Crowston JG,Vingrys AJ,Trounce IA,Bui VB

    更新日期：2009-12-01 00:00:00

  • Association of Upregulated Angiogenic Cytokines With Choroidal Abnormalities in Chronic Central Serous Chorioretinopathy.

    abstract：Purpose:To clarify the distinct molecular pathogenesis of central serous chorioretinopathy (CSC) and pachychoroid neovasculopathy (PNV). Methods:Aqueous humor (AH) was collected from 18 acute CSC, 20 chronic CSC, and 20 PNV patients. Concentrations of 30 cytokines in the AH were analyzed using a multiplex bead immunoa...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.18-25517

    authors： Terao N,Koizumi H,Kojima K,Yamagishi T,Nagata K,Kitazawa K,Yamamoto Y,Yoshii K,Hiraga A,Toda M,Kinoshita S,Sotozono C,Hamuro J

    更新日期：2018-12-03 00:00:00

  • Dietary ganglioside and long-chain polyunsaturated fatty acids increase ganglioside GD3 content and alter the phospholipid profile in neonatal rat retina.

    abstract：PURPOSE:During early development, the ganglioside composition of the retina changes significantly, in that GD3 becomes the primary ganglioside in the mammalian retina. Because gangliosides play an important role in neuronal cell differentiation and proliferation, this change in ganglioside profile may indicate retinal ...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：10.1167/iovs.04-1439

    authors： Park EJ,Suh M,Clandinin MT

    更新日期：2005-07-01 00:00:00

  • Estimation of the short-term fluctuation from a single determination of the visual field.

    abstract：:The short-term fluctuation in regular grid threshold static fields is commonly determined from repeated observations of a number of threshold points. In this study we estimated the short-term fluctuation from a single determination of the field. Sixty-two eyes of 62 patients were tested, using three consecutive repeti...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Schulzer M,Mills RP,Hopp RH,Lau W,Drance SM

    更新日期：1990-04-01 00:00:00

  • Neuropeptide Y and the retinal pigment epithelium: receptor subtypes, signaling, and bioelectrical responses.

    abstract：PURPOSE:To characterize the potential for neuropeptide Y (NPY) signaling in the retinal pigment epithelium (RPE) by identifying the NPY receptor subtypes present, determining the effect of NPY on second-messenger production and membrane conductance, and establishing the neural retina as a site of NPY gene expression. ...

    journal_title：Investigative ophthalmology & visual science

    pub_type： 杂志文章

    doi：

    authors： Ammar DA,Hughes BA,Thompson DA

    更新日期：1998-09-01 00:00:00