Results 61 to 70 of about 5,069,987 (201)
CYP1B1 mutational screening in a Portuguese cohort of primary congenital glaucoma patients
, 2017 CYP1B1 mutational screening in a Portuguese cohort of primary congenital glaucoma ...
M. J. Simões (2820919) +6 more
core +1 more source
Developmental Medicine &Child Neurology, EarlyView.Abstract Aims To identify, synthesize, and compare current terminologies and definitions of cerebral visual impairment (CVI) in children across clinical, research, educational, and policy settings. Method We conducted a systematic overview of systematic reviews and authoritative documents registered in PROSPERO (CRD420251025233) and reported in ...
Martina Micai +9 more
wiley +1 more source
The Genetics and the Genomics of Primary Congenital Glaucoma [PDF]
BioMed Research International, 2015 The sight is one of the five senses allowing an autonomous and high-quality life, so that alterations of any ocular component may result in several clinical phenotypes (from conjunctivitis to severe vision loss and irreversible blindness). Most parts of clinical phenotypes have been significantly associated with mutations in genes regulating the normal
Raffaella Cascella +6 more
openaire +2 more sources
Primary congenital glaucoma in Vietnam: analysis and identification of novel CYP1B1 variants
, 2019 Primary congenital glaucoma in Vietnam: analysis and identification of novel CYP1B1 ...
Huy Thinh Tran (6760715) +10 more
core +1 more source
Charting the course of Sjögren's disease: A historical analysis of scientific progress
European Journal of Oral Sciences, EarlyView.Abstract Sjögren's disease (SjD) bears the name of the Swedish ophthalmologist Henrik Sjögren. His 1933 doctoral thesis on keratoconjunctivitis sicca ignited interest, yet much remains under debate. SjD is an autoimmune disorder that primarily affects the exocrine glands, particularly the salivary and lacrimal glands, leading to a dryness of the eyes ...
Diego Ustárroz Cantali +3 more
wiley +1 more source
Surgical interventions for primary congenital glaucoma
Cochrane Database of Systematic Reviews, 2020 Primary congenital glaucoma (PCG) is an optic neuropathy with high intraocular pressure (IOP) that manifests within the first few years of a child's life and is not associated with other systemic or ocular abnormalities. PCG results in considerable morbidity even in high-income countries.To compare the effectiveness and safety of different surgical ...
Meghal, Gagrani +2 more
openaire +3 more sources
Pharmacogenetics of ophthalmic topical β-blockers [PDF]
, 2008 Glaucoma is the second leading cause of blindness worldwide. The primary glaucoma risk factor is elevated intraocular pressure. Topical β-blockers are affordable and widely used to lower intraocular pressure.
Smith, Edward M. +4 more
core +1 more source
The Journal of Physiology, EarlyView.Abstract figure legend Downregulation of mitotically associated long non‐coding RNA (MANCR) disturbs transcriptome and proteome in endothelial cells, possibly leading to endothelial and vascular dysfunction in preeclampsia. Abstract Preeclampsia (PE) is a hypertensive disorder during pregnancy, which is characterized by a wide spectrum of endothelial ...
Si‐Yan Zhang, Chi Zhou, Jing Zheng
wiley +1 more source
Current Journal of Glaucoma Practice with DVD, 2010 Glaucomas of the childhood are devastatinly deceptive in their presentations because of an insidious onset and late recognition. Primary congenital glaucomas (PCG) which serve as a prototype for glaucomas in the young Subtleties of diagnosis may lie in simple symptoms of watering and photophobia.
openaire +1 more source
BMC Ophthalmology, 2021 Background Severe congenital ophthalmological malformations and glaucoma might be an important occasional feature in patients with Coffin-Siris syndrome (CSS), especially Coffin-Siris syndrome 9 (CSS9, OMIM #615866) caused by SOX11 mutation.
Heidi Diel +5 more
doaj +1 more source