Literature DB >> 17346564

Congenital malformations of the eye and orbit.

Jason R Guercio1, Lois J Martyn.   

Abstract

Congenital malformations may affect any part of the eye and the ocular adnexa. Developmental defects may occur in isolation or as part of a larger systemic malformation syndrome. Many malformations can severely impair vision, whereas others have only cosmetic significance, and still others cause no symptoms and may go undiscovered or may be noted incidentally on routine eye examination. Congenital anomalies have numerous causes, most commonly of developmental genetic origin. The genetic basis of congenital eye and orbit anomalies is just beginning to be delineated, and future research on the subject will undoubtedly broaden understanding of the developmental etiology, pathophysiology, and treatment of congenital ocular disorders.

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Mesh:

Year:  2007        PMID: 17346564     DOI: 10.1016/j.otc.2006.11.013

Source DB:  PubMed          Journal:  Otolaryngol Clin North Am        ISSN: 0030-6665            Impact factor:   3.346


  16 in total

1.  Time-specific blockade of PDGFR with Imatinib (Glivec®) causes cataract and disruption of lens fiber cells in neonatal mice.

Authors:  Yin-Pin Zhou; Yang-Tao He; Cheng-Li Chen; Jun Ji; Jian-Qin Niu; Han-Zhi Wang; Shi-Feng Li; Lan Huang; Feng Mei
Journal:  Virchows Arch       Date:  2010-12-23       Impact factor: 4.064

2.  Next generation sequencing in research and diagnostics of ocular birth defects.

Authors:  Gordana Raca; Craig Jackson; Berta Warman; Tom Bair; Lisa A Schimmenti
Journal:  Mol Genet Metab       Date:  2010-03-15       Impact factor: 4.797

3.  Incidence, ocular findings, and systemic associations of ocular coloboma: a population-based study.

Authors:  Kelly M Nakamura; Nancy N Diehl; Brian G Mohney
Journal:  Arch Ophthalmol       Date:  2011-01

4.  A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.

Authors:  Daniel E Pineda-Alvarez; Benjamin D Solomon; Erich Roessler; Joan Z Balog; Donald W Hadley; Wadih M Zein; Casey K Hadsall; Brian P Brooks; Maximilian Muenke
Journal:  Am J Med Genet A       Date:  2011-10-04       Impact factor: 2.802

5.  The incidence, embryology, and oculofacial abnormalities associated with eyelid colobomas.

Authors:  H B Smith; D H Verity; J R O Collin
Journal:  Eye (Lond)       Date:  2015-01-23       Impact factor: 3.775

6.  Identification of copy number variants associated with BPES-like phenotypes.

Authors:  Antoinet C J Gijsbers; Barbara D'haene; Yvonne Hilhorst-Hofstee; Marcel Mannens; Beate Albrecht; Joerg Seidel; David R Witt; Melissa K Maisenbacher; Bart Loeys; Ton van Essen; Egbert Bakker; Raoul Hennekam; Martijn H Breuning; Elfride De Baere; Claudia A L Ruivenkamp
Journal:  Hum Genet       Date:  2008-10-25       Impact factor: 4.132

7.  Current techniques in surgical correction of congenital ptosis.

Authors:  Felicia D Allard; Vikram D Durairaj
Journal:  Middle East Afr J Ophthalmol       Date:  2010-04

8.  Spectrum of congenital defects of the eye and its adnexia in the pediatric age group; experience at a tertiary facility in Nigeria.

Authors:  Bola J Adekoya; Modupe M Balogun; Bola G Balogun; Rosemary A Ngwu
Journal:  Int Ophthalmol       Date:  2014-04-18       Impact factor: 2.031

9.  Unilateral optic nerve aplasia associated with rudimental retinal vasculature.

Authors:  Roberto Caputo; Andrea Sodi; Ugo Menchini
Journal:  Int Ophthalmol       Date:  2008-08-19       Impact factor: 2.031

10.  Eye anomalies and neurological manifestations in patients with PAX6 mutations.

Authors:  Yin-Hsuan Chien; Hsiang-Po Huang; Wuh-Liang Hwu; Yin-Hsiu Chien; Tseng-Ching Chang; Ni-Chung Lee
Journal:  Mol Vis       Date:  2009-10-22       Impact factor: 2.367

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