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Systemic Diseases in Patients with Congenital Aniridia: A Report from the Homburg Registry for Congenital Aniridia.
Ophthalmol Ther
January 2025
Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, Homburg, Saar, Germany.
Introduction: Congenital aniridia is increasingly recognized as part of a complex syndrome with numerous ocular developmental anomalies and non-ocular systemic manifestations. This requires comprehensive care and treatment of affected patients. Our purpose was to analyze systemic diseases in patients with congenital aniridia within the Homburg Aniridia Registry.
View Article and Find Full Text PDF12-year cumulative incidence rate of rare retinal diseases: a nationwide study in Korea.
Eye (Lond)
January 2025
Department of Ophthalmology, Chung-Ang University, College of Medicine, Seoul, South Korea.
Purpose: Understanding the incidence of rare diseases is important in establishing a proper public health care system and setting target diseases in medical research. Herein, we report the 12-year cumulative incidence of seven rare ocular diseases of the retina in South Korea.
Methods: We analysed clinical records of 1,126,250 South Korean population during 2006~2019.
Coil embolization of anomalous systemic artery to the left lower lobe in an asymptomatic adult: a case report.
J Cardiothorac Surg
January 2025
Department of Radiology, China-Japan Union Hospital of Jilin University, 126 Xiantai Street, Changchun, 130000, Jilin, China.
Background: Anomalous systemic artery to the left lower lobe (ASALLL) is a rare congenital anomaly. The primary symptoms include hemoptysis and lung infection, though some patients may remain asymptomatic. Currently, there is no consensus on the indications for treatment or the optimal choice of therapy for this condition.
View Article and Find Full Text PDFUterus didelphys: the first case report on molecular profiling of endometrial tissue from both uterine cavities.
Reprod Biol Endocrinol
January 2025
Department of Gynecology and Reproductive Medicine, Karolinska University Hospital, Huddinge, Stockholm, 14183, Sweden.
Background: A didelphic uterus represents a unique and infrequent congenital condition in which a woman possesses two distinct uteri, each with its own cervix. This anomaly arises due to partial or incomplete merging of the Müllerian ducts during the developmental stages in the womb. Accounting for uterine malformations, a didelphic uterus is a relatively rare condition, affecting approximately 0.
View Article and Find Full Text PDFAnomalous left pulmonary artery: case reports exploring anatomic variants.
J Cardiothorac Surg
January 2025
Department of Pediatric Cardiothoracic Surgery, Akron Children's Hospital, Akron, OH, USA.
Background: Pulmonary artery sling (PAS) is a rare congenital anomaly where the left pulmonary artery (LPA) branches from the right pulmonary artery, compressing the trachea and esophagus and frequently leading to respiratory distress in infants. Surgical intervention, such as LPA reimplantation or translocation, is crucial to relieve airway compression and restore normal pulmonary function.
Case Presentation: This report highlights varied LPA anatomies, including a unique case of an anomalous LPA without true sling formation but causing tracheal compression, alongside two typical PAS cases.
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