Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer +4 more
wiley +1 more source
Congenital cataract associated with persistent fetal vasculature: findings from IoLunder2 [PDF]
, 2016 PURPOSE: To describe the frequency, characteristics, and treatment outcome of persistent fetal vasculature (PFV) in children undergoing surgery for congenital and infantile cataract in the first 2 years of life.
British Isles Congenital Cataract Interest Group, . +4 more
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Secretopathies emerge as a new class of neurocristopathies
Developmental Dynamics, EarlyView.Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira +3 more
wiley +1 more source
, 2004 We report a case of posterior capsule opacity and anterior hyaloid opacity after congenital cataract extraction that was successfully and easily removed using the transconjunctival sutureless vitrectomy system (TSV 25, Bausch & Lomb Surgical).
김성수 +6 more
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Cirurgia de catarata congênita com implante de lente intraocular em olhos microftálmicos: resultados visuais e complicações [PDF]
, 2013 PURPOSE: To report the visual outcomes and complications of congenital cataract surgery with primary intraocular lens implantation in microphthalmic eyes of children younger than 4 years of age.
Ventura, Marcelo Carvalho +4 more
core +1 more source
Vaccinations in pregnancy: An update for a changing time
International Journal of Gynecology &Obstetrics, EarlyView.Abstract Maternal immunization is one of the most effective public health interventions to reduce infectious morbidity and mortality in pregnant women, fetuses, and newborns. Despite robust evidence supporting vaccine safety and effectiveness in pregnancy, global uptake has declined following the COVID‐19 pandemic, contributing to resurgent outbreaks ...
Wendy Hodge +11 more
wiley +1 more source
Congenital cataract: Optometric considerations [PDF]
, 1988 Congenital cataract: Optometric ...
Lyman, Douglas Ward
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Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature
Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi +13 more
wiley +1 more source
Granulomatous uveitis and congenital cataract: a rare association
, 2010 The association of a granulomatous uveitis and congenital cataract and is rarely observed in newborn children. We describe the history of two patients presenting simultaneously with these two features in the absence of a TORCH ...
Basso, A. +16 more
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Blindness and visual impairment due to age-related cataract in sub-Saharan Africa: a systematic review of recent population-based studies. [PDF]
, 2013 AIM: We aimed to evaluate age-related cataract as a contributor to blindness and visual impairment (VI) in sub-Saharan Africa (SSA). METHODS: A systematic review of population-based studies published between 2000 and October 2012.
Sherwin, Justin C +2 more
core +1 more source