نتایج جستجو برای: ocular coloboma
تعداد نتایج: 56254 فیلتر نتایج به سال:
PURPOSE To screen ten genes for mutations in 32 Chinese patients with microphthalmia and/or coloboma. METHODS Genomic DNA was prepared from 32 unrelated patients with microphthalmia (nine probands) and uveal coloboma (23 probands). Cycle sequencing was used to detect sequence variations in ten genes, including BMP4, VSX2, CRYBA4, GDF6, OTX2, RAX, SIX3, SIX6, SOX2, and LRP6. Variations were fu...
Attention deficit hyperactivity disorder (ADHD) is characterized by hyperactivity, inattention, and impulsivity. The coloboma mouse model of ADHD exhibits profound hyperactivity. To determine whether coloboma mice exhibit other signs of ADHD, we assessed latent inhibition as a test of attention, and impulsivity in a delayed reinforcement paradigm. Latent inhibition was present in control mice b...
PURPOSE The purpose of this study was to report on a posterior segment coloboma manifesting unusual morphology as determined by high-speed, ultrahigh-resolution optical coherence tomography imaging. METHODS A 47-year-old woman with bilateral colobomas was evaluated by fundus examination and high-speed, ultrahigh-resolution optical coherence tomography imaging. RESULTS Imaging with high-spee...
purpose: to assess the frequency and type of associated malformations and chromosomal anomalies among patients with anophthalmia, microphthalmia, and coloboma in sistan and baluchestan province. methods: patients with a clinical diagnosis of anophthalmia, microphthalmia, or coloboma were examined to find any anomaly in craniofacial, muscle-skeletal, cardiac, neurologic and urogenital systems. a...
Purpose The scaffold protein Axin2 is an antagonist and universal target of the Wnt/β-catenin pathway. Disruption of Axin2 may lead to developmental eye defects; however, this has not been examined. The purpose of this study was to investigate the role of Axin2 during ocular and extraocular development in mouse. Methods Animals heterozygous and homozygous for a Axin2lacZ knock-in allele were ...
To cite: Wang J-K, Huang T-L. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2015210558 DESCRIPTION A 10-year-old girl presented with blurred vision in her right eye since birth. Birth, developmental and medical histories were otherwise unremarkable. Her best corrected visual acuity was 20/30 and 20/20 in the right and left eyes, respectively, with bilateral mild...
BACKGROUND As a genetic disorder of abnormal pigmentation, the molecular basis of dyschromatosis universalis hereditaria (DUH) had remained unclear until recently when ABCB6 was reported as a causative gene of DUH. METHODOLOGY We performed genome-wide linkage scan using Illumina Human 660W-Quad BeadChip and exome sequencing analyses using Agilent SureSelect Human All Exon Kits in a multiplex ...
Congenital coloboma of eyelid is a rare anomaly. There is partial or total absence of eyelid structures. A seven year male child had coloboma of both the upper lids lateral to lacrimal puctum affecting the medial half of lid symmetrically with symblepharon in region of defect bilaterally. The study was carried out at Maharaja Krushna Chandra Gajpati Medical College Berhampur, Odisha in year 201...
The aim of this study was to analyze the techniques for intraocular lens (IOL) implantation in patients with coloboma of the iris. A retrospective cohort study was used to analyze the degree of iris coloboma and the characteristics of the crystalline lens in 56 patients with iris coloboma. The patients with a lesser degree of coloboma of the iris and an intact lens capsule were treated by iris ...
CHARGE association includes patients with at least four features prefixed by the letters of the mnemonic: Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies and/or hearing loss. Many also have facial palsy. We report a series identified by collaboration within one centre of all specialties concerned in the management of the CHARGE...
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