Purpose: To investigate the genetic cause, clinical characteristics, and potential therapeutic targets of infantile corneal myofibromatosis.
Design: Case series with genetic and functional analyses.
Participants: Four individuals from 2 unrelated families with clinical signs of corneal myofibromatosis were investigated.
Ophthalmologie
September 2023
Managers in the healthcare system play a critical role in ensuring high quality patient care, optimization of resources, management of complex situations, creation of a positive work environment and promotion of continuous progress. They set clear goals, support interdisciplinary collaboration, ensure patient safety and quality care, and assist in the development of future leaders. To accomplish these multiple tasks, important qualities such as integrity, communication skills, self-awareness, ability to learn, influence, empathy, courage, respect, ability to delegate and gratitude are essential.
View Article and Find Full Text PDFBackground: The blood-aqueous barrier (BAB) separates immunoprivileged tissue of the eye from the blood circulation. Disruption of the BAB is therefore a risk factor for rejection after keratoplasty.
Purpose: The present work provides a review of the work of our group and others on BAB disruption in penetrating and posterior lamellar keratoplasty and its implications for clinical outcome.
Prog Retin Eye Res
September 2023
Central subendothelial geographic deposits are formed as a fibrillar layer (FL) in advanced Fuchs endothelial corneal dystrophy (FECD). Previous studies demonstrated a significant decrease in corneal endothelial cell (CEC) density and an increase in focal corneal backscatter in the FL area. The present study investigated the association of the FL with edema formation and its localization.
View Article and Find Full Text PDFUnlabelled: A central collagen-rich subendothelial fibrillar layer (FL) correlates with areas of accentuated loss of corneal endothelial cells in advanced Fuchs endothelial corneal dystrophy (FECD). The present study sought to investigate whether the FL may be visualized by en face Scheimpflug backscatter imaging in vivo.
Design: Retrospective analysis of a prospective observational case series.
Osteosclerotic metaphyseal dysplasia (OSMD) is a rare autosomal recessive sclerosing skeletal dysplasia. We report on a 34-year-old patient with sandwich vertebrae, platyspondyly, osteosclerosis of the tubular bones, pathologic fractures, and anemia. In the third decade, he developed osteonecrosis of the jaws, which was progressive in spite of repeated surgical treatment over a period of 11 years.
View Article and Find Full Text PDFCraniofrontonasal syndrome (CFNS) (OMIM #304110) is a very rare, X-linked developmental disorder characterized by facial stigmata, including hypertelorism, frontonasal dysplasia, craniosynostosis, bifid nasal tip, and digital abnormalities. CFNS is caused by mutations in the Ephrin 1 gene (EFNB1) located at Xq13.1, which encodes the transmembrane protein Ephrin B1.
View Article and Find Full Text PDFThe osteopetroses and related sclerosing bone dysplasias can have a broad range of manifestations. Especially in the milder forms, sandwich vertebrae are an easily recognizable and reliable radiological hallmark. We report on four patients from three families presenting with sandwich vertebrae and platyspondyly.
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