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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 Novel De Novo Missense Variant in Netrin-1 (NTN1) Associated With Chorioretinal Coloboma, Sensorineural Hearing Loss and Polydactyly.
Clin Genet
December 2024
Development, Ageing and Disease, UCL Institute of Ophthalmology, London, UK.
Microphthalmia, anophthalmia and coloboma (MAC) comprise a highly heterogeneous spectrum of congenital ocular malformations with an estimated incidence of 1 in 5000 to 1 in 30 000 live births. Although there is likely to be a genetic component in the majority of cases, many remain without a molecular diagnosis. Netrin-1 was previously identified as a mediator of optic fissure closure from transcriptome analyses of chick and zebrafish and was shown to cause ocular coloboma when knocked out in both mouse and zebrafish.
View Article and Find Full Text PDFPeering into the depths: chorio-retinal coloboma and risk of retinal detachment.
BMJ Case Rep
December 2024
Ophthalmology, All India Institute of Medical sciences, Nagpur, India.
Interstitial 11q deletion in a patient with Sprengel's deformity: a case report and review of the literature.
Mol Cytogenet
December 2024
Department of Genetics, Charles Nicolle Hospital, Tunis, Tunisia.
Article Synopsis
- The article discusses a rare genetic abnormality involving deletions on chromosome 11, specifically between the 11q13 and 11q23 regions, which can lead to various clinical features including intellectual disabilities and malformations, though these do not consistently correlate with specific genetic patterns.* -
- The case study focuses on a 9-year-old boy exhibiting Sprengel's deformity, iris and chorioretinal coloboma, and mild motor development delay, identified to have a significant interstitial deletion on chromosome 11 through advanced genetic testing methods.* -
- The findings emphasize the variability in symptoms associated with 11q deletions and suggest that the observed deformities might not have a direct genetic link but rather could be
Bardet-Biedl syndrome with chorioretinal coloboma: a case series and review of literature.
Ophthalmic Genet
December 2024
Flaum Eye Institute, Ocular Genetics, Golisano Children's Hospital, Rochester, New York, USA.
Introduction: Bardet-Biedl Syndrome (BBS) is a ciliopathy causing developmental defects and progressive retinal dystrophy, whereas choroidal coloboma is a developmental defect causing structural deficiency in the posterior retina. Both are rarely reported together.
Methods: Here, we describe the phenotype and genotype of three unrelated patients with co-occurrence of Bardet-Biedl Syndrome and chorioretinal coloboma and review the pertinent literature.
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