The advent of integrated intraoperative optical coherence tomography (i2OCT) has opened the door for safer and more complex surgeries in the retina and cornea. However, to limit its use to just two subspecialties within ophthalmology is an opportunity lost for many other subspecialties. Here, we describe the use of i2OCT in pediatric cataract surgery in circumstances that are not traditionally considered for i2OCT use. The specific circumstances include: evaluation and treatment of a child following cataract extraction with lens implantation who has failed two attempts at YAG capsulotomy; lysis of post-trauma keratolenticular adhesion in an opaque cornea; surgical removal of secondary lens epithelial cell proliferation after pediatric cataract extraction with lens implantation, and identification of posterior capsular openings and defects. In each case the use of i2OCT allowed the procedure to be completed safely and successfully or informed the surgeon, allowing modification of the surgical decision tree.
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http://dx.doi.org/10.1159/000511815 | DOI Listing |
Sensors (Basel)
December 2024
Ophthalmic Instrumentation Development Lab, The Wilmer Eye Institute, The Johns Hopkins University School of Medicine, Wilmer 233, 600 N. Wolfe St., Baltimore, MD 21287, USA.
Signal amplitudes obtained from retinal scanning depend on numerous factors. Working with polarized light to interrogate the retina, large parts of which are birefringent, is even more prone to artifacts. This article demonstrates the necessity of using normalization when working with retinal birefringence scanning signals in polarization-sensitive ophthalmic instruments.
View Article and Find Full Text PDFVaccines (Basel)
December 2024
Global Immunization Division, United States Centers for Disease Control and Prevention, Atlanta, GA 30329, USA.
Background/objectives: Congenital rubella syndrome (CRS) is a constellation of serious multi-organ birth defects following rubella virus infection during early pregnancy. Countries in which rubella vaccination has not yet been introduced can have a high burden of this disease. Data on CRS burden and epidemiology are needed to guide the introduction of a rubella vaccine and monitor progress for rubella elimination, but the multi-system nature of CRS manifestations and required specialized testing creates a challenge for conducting CRS surveillance in developing settings such as Sudan.
View Article and Find Full Text PDFGenes (Basel)
December 2024
Department of Clinical Genetics, Medical University of Lodz, Pomorska Str. 251, 92-213 Lodz, Poland.
-spectrum disorders are caused by a mutation in the gene. The term includes a wide range of rare disorders, from the most severe Wolfram syndrome with autosomal recessive inheritance to milder clinical manifestations with a single causative variant in the gene, such as Wolfram-like syndrome, low-frequency sensorineural hearing loss (LFSNHL), isolated diabetes mellitus (DM), nonsyndromic optic atrophy (OA), and isolated congenital cataracts. The aim of this study was to evaluate genotype-phenotype correlations in Polish patients with -spectrum disorders.
View Article and Find Full Text PDFMol Biol Rep
January 2025
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, Queen Square House, London, WC1N 3BG, UK.
Background: Male EBP disorder with neurologic defects (MEND syndrome) is an extremely rare disorder with a prevalence of less than 1/1,000,000 individuals worldwide. It is inherited as an X-linked recessive disorder caused by impaired sterol biosynthesis due to nonmosaic hypomorphic EBP variants. MEND syndrome is characterized by variable clinical manifestations including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities.
View Article and Find Full Text PDFJ AAPOS
December 2024
Department of Ophthalmology, Virginia Commonwealth University School of Medicine, Richmond, Virginia; Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, Virginia; Department of Pediatrics, Virginia Commonwealth University School of Medicine, Children's Hospital of Richmond at Virginia Commonwealth University, Richmond, Virginia. Electronic address:
The FDXR-related disorder is caused by pathogenic variants in the FDXR gene. Including our case, a total of 47 patients have been reported. The most common genotypes are the homozygous c.
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