Results 41 to 50 of about 2,635 (188)
Clinical Profile of Pediatric Cataracts in a Tertiary Eye Care Center in Mongolia
Central Asian Journal of Medical Sciences, 2022 Objective: To describe the clinical characteristics of pediatric cataracts in children undergoing surgery in our tertiary care center in Mongolia. Methods: Patients aged ≤ 18 years who underwent pediatric cataract surgery over a three-year period at our ...
Shamsiya Murat +4 more
doaj +1 more source
CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder +7 more
wiley +1 more source
Development of Secondary Glaucoma After Congenital Cataract Surgery and the Underlying Risk Factors
Türk Oftalmoloji Dergisi, 2011 Pur po se: To determine the risk factors and incidence of glaucoma following congenital cataract surgery in our case series. Patients and Methods: Records of children who underwent cataract surgery between January 2001 and December 2009 were reviewed ...
Nilgün Uysal Solmaz +2 more
doaj +1 more source
ADAMTS18-related anterior segment dysgenesis mistaken as Axenfeld–Rieger syndrome
Taiwan Journal of Ophthalmology, 2023 Axenfeld–Rieger spectrum is a range of anterior segment dysgenesis (ASD) phenotypes often related to heterozygous pathogenic variants in the ocular transcription factor genes FOXC1 or PITX2.
Arif O Khan
doaj +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.We have identified 4 pathogenic/likely pathogenic changes and 2 variants of uncertain significance, 3 of which were novel. The identification of disease‐causing variants in the CRYAA, MYH9, RP2, and CLNC1 genes allowed us to establish an accurate genetic diagnosis of inherited cataract and to describe overlapping clinical phenotypes.
Kristiyana Vitanova +10 more
wiley +1 more source
Indian Journal of Ophthalmology, 2020 Purpose: To report the outcomes of pars-plana approach for the management of brunescent cataract in eyes with severe microcornea and associated chorio-retinal coloboma.
Alok C Sen +5 more
doaj +1 more source
Cornelia de Lange syndrome with optic disk pit: Novel association and review of literature
Oman Journal of Ophthalmology, 2014 Cornelia de Lange syndrome (CdLS), also called Brachmann-de Lange syndrome, is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, ophthalmological abnormalities, prenatal and postnatal growth deficiency, psychomotor ...
Bhamy Hariprasad Shenoy +3 more
doaj +1 more source
Organ‐Specific Histopathological Effects of Prenatal Alcohol Exposure: A Narrative Review
Congenital Anomalies, Volume 66, Issue 1, January/February 2026.ABSTRACT The role of alcohol‐induced epigenetic modifications that predispose the fetus to metabolic dysregulation, increased susceptibility to future substance use, and long‐term behavioral and cognitive impairments has received increasing attention.
Rana Nur Gursu +2 more
wiley +1 more source
Abnormal presentation of Peters’ anomaly in a family with microcornea cataract syndrome [PDF]
, 2009 A case of Peters’ anomaly with bilateral crease on ear lobule and hypospadiuswas reported in a family with microcornea, cataract syndrome. The eyes hadall the features of Perters’ Anomaly.
Shawky, RM, Sadik, DI
core
Multimodal imaging in non-syndromic microphthalmia: a case series
PAMJ Clinical Medicine, 2020 Microphthalmia is a rare congenital or developmental anomaly in which the globe is abnormally small. Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These
Besma Ben Achour +5 more
doaj +1 more source