Results 41 to 50 of about 1,054 (135)
The hidden eye: A case of cryptophthalmos
Philippine Journal of Ophthalmology, 2004 Objective: To report a case of cryptophthalmos. Methods: This is a report of a case of cryptophthalmos seen at the University of the Philippines-Philippine General Hospital (UP-PGH).
Raquel M. Joaquin-Quino, MD +2 more
doaj
Prevalence of Congenital Ocular Anomalies in 15 Countries of Europe: Results From the Medikeye Study
Birth Defects Research, Volume 116, Issue 11, November 2024.ABSTRACT Background Congenital ocular anomalies (COA) are among the most common causes of visual impairment in children in high‐income countries. The aim of the study is to describe the prevalence of the various COA recorded in European population‐based registries of CA (EUROCAT) participating in the EUROmediCAT consortium.
Charlotte Dubucs +33 more
wiley +1 more source
Indian Journal of Ophthalmology, 1992 This report is a case of a 4 year old male child who was admitted for meningitis. On clinical examination he was diagnosed as a case of oculo-suriculo-vertebral dysplasia with congenital heart disease, i.e., tetralogy of Fallots besides his presenting ...
Verma Manju, Faridi MMA
doaj
Childhood glaucoma: Implications for genetic counselling
Clinical Genetics, Volume 106, Issue 5, Page 545-563, November 2024.Venn diagram representation of genes for which pathogenic variants have been identified to cause various types of childhood glaucoma. This diagram represents the genetic and phenotypic heterogeneity of childhood glaucoma illustrating the need for informed genetic counselling and testing as part of a multidisciplinary approach.
Giorgina Maxwell, Emmanuelle Souzeau
wiley +1 more source
Prevalence and prenatal diagnosis of congenital eye anomalies: A population‐based study
BJOG: An International Journal of Obstetrics &Gynaecology, Volume 131, Issue 10, Page 1385-1391, September 2024.Abstract Objective To estimate the prevalence and trend of congenital eye anomalies (CEAs) and the rate of prenatal diagnosis over a 10‐year period. Design Retrospective population‐based registry study. Setting All maternity units in Paris, France, from 2010 to 2020. Population A cohort of 115 cases of CEA detected among all live births or stillbirths,
Corentin Maillet +7 more
wiley +1 more source
Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement
JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 12, Issue 4, April 2024.This study reported an untypical patient with mandibulofacial dysostosis with microcephaly (MFDM), who exhibited previously unreported phenotypes, including orbit anomalies and spina bifida occulta. A novel pathogenic insertion mutation of EFTUD2 was identified by whole‐exome sequencing as the etiology for this MFDM case, highlighting the importance of
Ying Chen +9 more
wiley +1 more source
Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome
American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
Katherine J. K. Patterson +2 more
wiley +1 more source
The prevalence of glaucoma in a 70‐year‐old Swedish population in the city area of Gothenburg
Acta Ophthalmologica, Volume 102, Issue 2, Page 208-215, March 2024.Abstract Purpose To determine the prevalence of and risk factors for open‐angle glaucoma in a population of 70‐year‐olds in Gothenburg, Sweden and to compare the visual function between the glaucoma population and the non‐glaucoma population. Methods Of the entire cohort (n = 1203), 1182 participants responded a questionnaire on self‐reported glaucoma ...
Lena Havstam Johansson +4 more
wiley +1 more source
Proceedings 36th Symposium ESVN‐ECVN 12th‐14th September 2024
Journal of Veterinary Internal Medicine, Volume 38, Issue 6, Page 3461-3536, November/December 2024.
wiley +1 more source