Results 81 to 90 of about 40,082 (242)

Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype–Phenotype Correlations in 27 Chinese Han Families

Scientific Reports, 2017
Congenital cataract is the most frequent inherited ocular disorder and the most leading cause of lifelong visual loss. The screening of pathogenic mutations can be very challenging in some cases, for congenital cataracts are clinically and genetically ...
Yi Zhai, Jinyu Li, Wangshu Yu, Sha Zhu, Yinhui Yu, Menghan Wu, Guizhen Sun, Xiaohua Gong, Ke Yao   +8 more
doaj   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Two Cases of Hallermann-Streiff Syndrome with Retinal Abnormalities [PDF]

, 2018
Hallermann-Streiff syndrome is a rare congenital disorder that is characterized by malformations of the craniofacial region with ocular abnormalities. Some ophthalmic signs can be observed in early age and some in adulthood.
Bausz Mária, Lukáts Olga, Maka Erika, Nagy Zoltán Zsolt, Resch Miklós   +4 more
core   +1 more source

Axial length, myopia progression, and myopic maculopathy in Stickler syndrome

Acta Ophthalmologica, EarlyView.
Abstract Purpose We lack knowledge on the potentially progressive nature of and the prevalence of complications to myopia as a characteristic trait of Stickler syndrome. Methods This cross‐sectional study combines ophthalmic examination and medical record data on Danish patients with genetically confirmed Stickler syndrome type 1 (COL2A1) and type 2 ...
Kirstine B. Boysen, Mette Bertelsen, Nanna D. Rendtorff, Stense Farholt, Line Kessel   +4 more
wiley   +1 more source

Investigation of crystallin genes in familial cataract, and report of two disease associated mutations. [PDF]

, 2004
AIMS: Mutations of seven crystallin genes have been shown to cause familial cataract. The authors aimed to identify disease causing crystallin mutations in paediatric cataract families from south eastern Australia.
Burdon, Kathryn Penelope, Wirth, M Gabriela, Mackey, David A, Russell-Eggit, Isabelle M, Craig, Jamie E, Elder, James E, Dickinson, Joanne L, Sale, Michele M   +7 more
core   +1 more source

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, EarlyView.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

A Fiber Optic Probe for the Detection of Cataracts [PDF]

, 1993
A compact fiber optic probe developed for on-orbit science experiments was used to detect the onset of cataracts, a capability that could eliminate physicians' guesswork and result in new drugs to 'dissolve' or slow down the cataract formation before ...
Ansari, Rafat R., Dhadwal, Harbans S.
core   +1 more source

Occupational exposure to metal welding and cataract: A systematic review and meta‐analysis

Acta Ophthalmologica, EarlyView.
Abstract Background Metal welding generates ultraviolet radiation (UVR) of cataractogenic wavelengths, and UVR emitted during welding has been associated with cataract formation, but results from prior studies are conflicting. Methods We conducted a systematic review and meta‐analysis of epidemiological studies addressing associations between ...
Jakob Bjerager, Esben Meulengracht Flachs, Martin Nissen Hermann, Jens Peter Ellekilde Bonde, Ingrid Sivesind Mehlum, Stinna Skaaby   +5 more
wiley   +1 more source

Astigmatic changes after Descemet membrane endothelial keratoplasty (DMEK) in decompensated penetrating keratoplasty grafts

Acta Ophthalmologica, EarlyView.
Abstract Purpose To evaluate the surgery‐induced changes of astigmatism after Descemet membrane endothelial keratoplasty (DMEK) in eyes with failed previous penetrating keratoplasty (PK). Design Retrospective, interventional cohort study based on prospective DMEK database.
Florian Thomas Steinberg, Jithmi Weliwitage, Marie von Berg, Silvia Schrittenlocher, Simona Schlereth, Claus Cursiefen, Björn Bachmann   +6 more
wiley   +1 more source

A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32 [PDF]

, 2010
Background: A novel phenotype consisting of cataract, mental retardation, erythematous skin rash and facial dysmorphism was recently described in an extended pedigree of Australian Aboriginal descent.
Kathryn Hattersley, Kate J Laurie, Jan E Liebelt, Jozef Gecz, Shane R Durkin, Jamie E Craig, Kathryn P Burdon   +6 more
core   +3 more sources