Results 71 to 80 of about 1,560 (180)
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
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
Roberts-Bistner blepharoplasty for correction of bilateral eyelid agenesis in a cat [PDF]
, 2023 Eyelid agenesis, also known as palpebral coloboma, is the most frequent congenital abnormality of feline´s eyelid compromising the patient's ocular health.
Carlos Pereira, Luiz +4 more
core +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
Dental Management of a Patient with Nager Acrofacial Dysostosis [PDF]
, 2015 Nager syndrome is a rare syndrome resulting from developmental abnormalities of the first and second branchial arches. Nager syndrome is rare and mostly sporadic. The main clinical features consist of craniofacial, limb, and musculoskeletal morphogenesis.
A. P. Münevveroğlu, R. Bozatlıoğlu
core +3 more sources
The Role of Sox4 in Ocular Morphogenesis and Retinal Differentiation [PDF]
, 2022 Visual impairment ranges from mild forms that can be corrected with glasses to more severe cases that result in permanent loss of vision. Microphthalmia, anophthalmia, and coloboma (collectively referred to as MAC) account for 11% of cases of pediatric ...
Petersen, Rebecca
core +1 more source
Orofacial features of Treacher Collins syndrome [PDF]
, 2009 Treacher Collins syndrome (TCS) is a rare autosomal dominant disorder of craniofacial development. Major features include midface hypoplasia, micrognathia, microtia, conductive hearing loss, and cleft palate.
Bonan,Paulo Rogério Ferreti +5 more
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