Results 71 to 80 of about 464,407 (196)

Childhood glaucoma: Implications for genetic counselling

Clinical Genetics, Volume 106, Issue 5, Page 545-563, November 2024.
Venn diagram representation of genes for which pathogenic variants have been identified to cause various types of childhood glaucoma. This diagram represents the genetic and phenotypic heterogeneity of childhood glaucoma illustrating the need for informed genetic counselling and testing as part of a multidisciplinary approach.
Giorgina Maxwell, Emmanuelle Souzeau
wiley   +1 more source

Endoscopy-assisted balloon dacryocystoplasty in the treatment of congenital nasolacrimal-duct obstruction

Philippine Journal of Ophthalmology, 2007
Objective: To report two cases of balloon dacryocystoplasty (DCP). Method: This is a case series. Results: A five-year-old boy with congenital nasolacrimal-duct obstruction (CNLDO) in the right eye underwent primary DCP.
Raoul D. Henson, MD, Ruben D. Henson III, MD   +1 more
doaj  

Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)

American Journal of Medical Genetics Part A, Volume 194, Issue 10, October 2024.
Abstract Myhre syndrome is an increasingly diagnosed ultrarare condition caused by recurrent germline autosomal dominant de novo variants in SMAD4. Detailed multispecialty evaluations performed at the Massachusetts General Hospital (MGH) Myhre Syndrome Clinic (2016–2023) and by collaborating specialists have facilitated deep phenotyping, genotyping and
Angela E. Lin, Eleanor R. Scimone, Robyn P. Thom, Duraisamy Balaguru, T. Bernard Kinane, Peter P. Moschovis, Michael S. Cohen, Weizhen Tan, Cole D. Hague, Katelyn Dannheim, Lynne L. Levitsky, Evelyn Lilly, Daniel V. DiGiacomo, Kara M. Masse, Sarah M. Kadzielski, Claire A. Zar‐Kessler, Leo C. Ginns, Ann M. Neumeyer, Mary K. Colvin, Jack S. Elder, Christopher P. Learn, Hongmei Mou, Kathryn M. Weagle, Karen A. Buch, William E. Butler, Kenda Alhadid, Patricia L. Musolino, Sadia Sultana, Dhrubajyoti Bandyopadhyay, Otto Rapalino, Zachary S. Peacock, Elizabeth L. Chou, Gena Heidary, Aaron T. Dorfman, Shaine A. Morris, James D. Bergin, Jonathan H. Rayment, Lisa A. Schimmenti, Mark E. Lindsay, MGH Myhre Syndrome Study Group, Luisa Paredes Acosta, Jennifer A. Bassetti, Sarah Bowdin, Joy A. Bress, Joseph A. Camarda, Joanne S. Chiu, C. Eduardo Corrales, Gregory Costain, Mary Beth P. Dinulos, Rajiv Devanagondi, Emily S. Doherty, John Dykes, Ann‐Christine Duhaime, Robert F. English, Elizabeth Fieg, Nora D. B. Friedman, Carl P. Garabedian, Samantha Glowacki, Barbara R. Gottlieb, Mary Hope Griffin, Frances J. Hayes, Stephanie R. Hicks, Alicia M. Hinze, Brigette A. Jason, Joel Krier, Kristen Lindgren, Michael Lyons, Adnan Majid, Hannah C. Mannem, Marie McDonald, Vinod Misra, Amy Morgan, Barbara J. Nath, Michele Ploutz, Eloise J. Prijoles, Margaret B. Pulsifer, Alicia M. Quesnel, Farrah Rajabi, Mersedeh Rohanizadegan, Ana Maria Rosales, Holly Rothermel, Edith Schussler, Elizabeth A. Sellars, Joseph Shieh, Stephanie Sherrill, Heidi Taska‐Tench, Matthew Thompson, George E. Tiller, Stephanie E. Vallee, David Viskochil, Stephanie Ware, Rachel C. Whooten, Samuel Yang, Elaine H. Zackai, Dala Zakaria   +94 more
wiley   +1 more source

Nasolacrimal duct Probing versus Silicone Intubation in the Treatment of Complex Congenital Nasolacrimal Duct Obstruction [PDF]

Zagazig University Medical Journal
Purpose: to compare the results of probing alone versus primary silicone intubation in cases of complex congenital NLDO.Patients and methods : The study was done in ophthalmology department, Zagazig university hospitals from May 2022 to December 2023 ...
mohammed hegab, Sherif Sharaf EL Deen, Ahmed Kotb, Moustafa Salamah   +3 more
doaj   +1 more source

Insights in the treatment of congenital nasolacrimal duct obstruction

Romanian Journal of Ophthalmology, 2017
Introduction: Congenital nasolacrimal duct obstruction is one of the most common causes of epiphora in newborns and the main cause of this condition is the persistence of Hasner membrane. Several treatment options are available, like conservative treatment, probing, irrigation, or more complex techniques.
openaire   +2 more sources

Clinical Characteristics, Genetic Analysis, and Literature Review of Cornelia de Lange Syndrome Type 4 Associated With a RAD21 Variant

Molecular Genetics &Genomic Medicine, Volume 12, Issue 9, September 2024.
Whole exome sequencing revealed a pathogenic variant c.1143G>A (p.Trp381*) in the RAD21 gene. We reviewed 36 patients with CdLS related to RAD21 gene variants reported worldwide. Frameshift variants constituted the predominant variant type, representing 36% (13/36) of cases.
Xinyu Yue, Meiping Chen, Xiaoan Ke, Hongbo Yang, Fengying Gong, Linjie Wang, Lian Duan, Hui Pan, Huijuan Zhu   +8 more
wiley   +1 more source

Probing for congenital nasolacrimal duct obstruction in older children

Middle East African Journal of Ophthalmology, 2013
The purpose of this study was to evaluate the role of probing in congenital nasolacrimal duct obstruction in children age 2 years and older and to establish factors predictive of the outcome.A prospective study was conducted on consecutive patients older than 24 months with congenital nasolacrimal duct obstruction.
Eshragi, Bahram, Fard, Masoud Aghsaei, Masomian, Babak, Akbari, Mohammadreza   +3 more
openaire   +3 more sources

Nasolacrimal Duct Obstruction in Epiphoric Patients in the North Indian Population

Introduction Epiphora, or excessive tear production, is a common presenting complaint in ophthalmology and is frequently associated with acquired nasolacrimal duct obstruction.
Mohd Faraz, Saqib Zameer, Mudassir Alam, Asra Warees, Afreen Abbas, Urooj Fatima, Zeeshan Akram   +6 more
core   +1 more source

Results of Probing for Congenital Nasolacrimal Duct Obstruction in Children Older than 13 Months of Age

Indian Journal of Ophthalmology, 2005
PURPOSE: To determine the success rate of probing for congenital nasolacrimal duct obstruction in children older than 13 months of age. METHODS: In a retrospective study of 84 children, 13 months and older who underwent probing for congenital ...
Maheshwari Rajat
doaj  

Tube Extrusion and Cheese Wiring Five Years Post Dacryocystorhinostomy

Philippine Journal of Otolaryngology Head and Neck Surgery, 2011
Objective: Dacrocystorhinostomy (DCR) with silicone tube stenting is a common procedure for congenital nasolacrimal duct obstruction (NLDO). The incidence of congenital NLDO is about 6% in the newborn.
Khairullah Bin Anuar, Balwant Singh Gendeh   +1 more
doaj   +1 more source