We read with interest the case report from Shah et al. (2014) hypothesising that coloboma may be a feature of the Fetal Valproate Syndrome (FVS) . We have observed four further individuals who presented with ocular coloboma following exposure to sodium valproate (VPA) in utero and believe that this is a true association.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959663 | PMC |
| http://dx.doi.org/10.1097/MCD.0000000000000028 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A Case of a Newborn Presenting With a VACTERL-Like Association.
Cureus
December 2024
Family Medicine, Louisiana State University Health Sciences Center, Alexandria, USA.
The VACTERL (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities) association represents an enigmatic syndrome requiring further study. This report describes a full-term neonate born to a multiparous woman who was found, upon further examination, to have multiple congenital abnormalities, including a bicuspid aortic valve, patent foramen ovale, tracheoesophageal fistula (TEF), asymmetric crying facies, microphallus, and a single inguinal testis. The discussion explores environmental and genetic factors that may contribute to this association, as well as similar conditions, such as CHARGE (coloboma, heart defects, choanal atresia, growth retardation, genital abnormalities, and ear abnormalities) syndrome.
View Article and Find Full Text PDFTwo novel variants in associated with anophthalmia and congenital cystic eye.
Ophthalmic Genet
January 2025
Department of Ophthalmology, Unidade de Saúde Local de São João, Porto, Portugal.
Purpose: We present the case of a newborn with right anophthalmia, left congenital cystic eye, and two novel variants in the gene. This report provides a comprehensive discussion of the clinical presentation, management strategies, and long-term follow-up for this rare condition.
Methods: A thorough ophthalmic examination was performed.
The Evaluation of Ocular Posterior Segment Findings in 5527 Term Infants Using Smartphone-Based Fundus Imaging.
J Ophthalmol
December 2024
Department of Ophthalmology, Ankara Bilkent City Hospital, Ankara, Turkey.
To evaluate the two-year fundus examination outcomes of term infants undergoing eye screening. Retrospective review of our data of term infants at a tertiary care center (Ankara Bilkent City Hospital) from October 2021 to October 2023. All screened infants underwent red reflex test and dilated posterior segment examination.
View Article and Find Full Text PDFA case report of macular coloboma as an ocular clinical feature in Sturge Weber Syndrome.
Int J Surg Case Rep
January 2025
King Khaled Eye Specialist Hospital, KKESH, Riyadh, Saudi Arabia.
Introduction And Importance: Sturge Weber Syndrome (SWS) is a congenital neurocutaneous disorder that affects several organs. Abnormal ocular findings are typically on the same side as the SWS. These changes can affect various parts of the eye, including the eyelid, front chamber, cornea, choroid, and retina.
View Article and Find Full Text PDFClinical characteristics and ultrasound biomicroscopic evaluation of anterior segment dysgenesis: a retrospective cross-sectional study.
Quant Imaging Med Surg
December 2024
Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China.
Background: Anterior segment dysgenesis (ASD) encompasses a range of congenital disorders affecting the development of the eye's anterior segment, often leading to significant visual impairment and glaucoma. Although numerous studies have focused on the genetic basis of ASD, few have comprehensively compared the clinical features across ASD subtypes. This study aims to address this gap by describing and comparing the clinical characteristics and ultrasound biomicroscopy (UBM) imaging features of various ASD subtypes in a Chinese tertiary medical center.
View Article and Find Full Text PDFWant 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!