Purpose: To discuss the ophthalmic findings and their clinical significance in 10 new cases of Jacobsen syndrome (mental retardation, craniofacial anomalies, congenital heart defects, and blood dyscrasias) and to review the ophthalmic findings in all previously reported cases in the literature.
Methods: Ten new cases of Jacobsen syndrome were collected and studied prospectively for detection of abnormal ophthalmologic examination findings. A total of 63 previously reported cases were identified from Medline and analyzed for ophthalmologic abnormalities.
Results: The most common ophthalmologic findings in the new cases of Jacobsen syndrome included strabismus (90.0%), refractive error (90.0%), and ptosis (70.0%). Facial dysmorphism was also common and included hypertelorism, epicanthal folds, and down-slanting palpebral fissures. Uncommon ophthalmic findings included 5 patients with retinal vascular tortuosity, 1 with glaucoma, and 3 with amblyopia. In 63 cases reviewed, 36 reported ophthalmologic abnormalities. The most common findings included facial anomalies and ptosis. Only 5 of the 63 patients had evidence of strabismus, and none were reported to have retinal vascular tortuosity.
Conclusions: To prevent unnecessary vision loss in children with Jacobsen syndrome, proper screening for amblyogenic factors is imperative. We recommend a baseline complete ophthalmologic examination with subsequent follow-up examinations depending on the particular findings noted during the initial screening visit.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.jaapos.2003.09.002 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Assessing the efficacy and safety of STOP (successful treatment for paranoia)-an app-based cognitive bias modification therapy for paranoia: a randomised clinical trial protocol.
Trials
December 2024
Department of Psychology, University of Bath, Bath, UK.
Background: Paranoia, the belief that you are at risk of significant physical or emotional harm from others, is a common difficulty, which causes significant distress and impairment to daily functioning, including in psychosis-spectrum disorders. According to cognitive models of psychosis, paranoia may be partly maintained by cognitive processes, including interpretation biases. Cognitive bias modification for paranoia (CBM-pa) is an intervention targeting the bias towards interpreting ambiguous social scenarios in a way that is personally threatening.
View Article and Find Full Text PDFBackground: As set out in Sustainable Development Goal 3.3, the target date for ending the HIV epidemic as a public health threat is 2030. Therefore, there is a crucial need to evaluate current epidemiological trends and monitor global progress towards HIV incidence and mortality reduction goals.
View Article and Find Full Text PDFImpact of Regulatory Risk Communication on Thrombosis With Thrombocytopenia Syndrome for COVID-19 Adenovirus Vector Vaccines on European Healthcare Professionals.
Pharmacoepidemiol Drug Saf
December 2024
Medicines Department, Centre for Health Protection, National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands.
Purpose: The European Medicines Agency (EMA) issued regulatory actions and communications in 2021 on thrombosis with thrombocytopenia syndrome (TTS) associated with adenovirus vector vaccines Vaxzevria or Jcovden. This study aimed to evaluate the impact of these actions on awareness, knowledge and implementation in practises of healthcare professionals (HCP).
Methods: Web-based cross-sectional surveys were conducted on HCPs engaged in the vaccination, monitoring or counselling about the vaccines.
Eight induced pluripotent stem cell lines (iPSCs) derived from two patients with Leukocyte adhesion deficiency Type I (LAD I) with mutations in the ITGB2 gene.
Stem Cell Res
December 2024
Goethe University, Department of Pediatrics, Division for Stem Cell Transplantation and Immunology, Frankfurt/Main, Germany.
Leukocyte Adhesion Deficiency Type I (LAD I) is a rare inborn error of immunity caused by mutations in the ITGB2 gene coding for β2-integrin CD18 on the surface of leukocytes. Affected patients display severe clinical manifestations with life threatening infections and inflammatory complications due to an impaired ability of leukocytes to transmigrate from the blood vessel to the tissue. Here we describe the generation of eight induced pluripotent stem cell lines from two patients with LAD I and mutations in the ITGB2 gene.
View Article and Find Full Text PDFPrenatal diagnosis of Jacobsen syndrome associated with a distal 11q deletion and a distal 8q duplication by chromosome microarray analysis in a fetus with a de novo unbalanced translocation of 46,XX,der(11)t(8;11)(q24.13;q23.3) and multiple congenital anomalies on fetal ultrasound.
Taiwan J Obstet Gynecol
November 2024
Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
Article Synopsis
- The study discusses the prenatal diagnosis of Jacobsen syndrome in a 41-year-old pregnant woman, which was linked to specific chromosomal abnormalities detected through advanced genetic testing.
- The fetus exhibited multiple congenital anomalies including growth restrictions, heart defects, and physical deformities, prompting amniocentesis for further analysis.
- Chromosome microarray analysis (CMA) revealed significant deletions and duplications in chromosomes 11 and 8, respectively, confirming the diagnosis and illustrating the effectiveness of CMA in identifying complex genetic issues in prenatal cases.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!