Congenital cataract is the first main cause of avoidable blindness in children. The manifestations of congenital cataract are diverse and complex, often associated with other ocular structural abnormalities. The infantile eyeballs are in the growth and development stage, the structure of eyeball wall is fragile, and the blood-ocular barrier is immature. Therefore, congenital cataract surgery features relatively higher surgical technical requirements with higher postoperative complications occurrence. Congenital cataract is not a miniature version of age-related cataract, which has its own unique surgical principles. In this article, issues including the preoperative characteristics of congenital cataract, surgical timing and techniques, and follow-up treatment, were discussed based on expert clinical experiences of Zhongshan Ophthalmic Center and relevant literatures. .
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http://dx.doi.org/10.3760/cma.j.cn112142-20201022-00697 | DOI Listing |
Anterior segment dysgenesis (ASD) defines a collection of congenital eye disorders that affect structures within the anterior segment of the eye. Mutations in genes that initiate and regulate the complex pathways involved in eye development can cause a spectrum of disorders such as ASD, congenital cataracts and corneal opacity. In South Africa, causes of ASD are poorly understood with few studies looking at the possible genetic basis for these disorders.
View Article and Find Full Text PDFJ Cell Biol
April 2025
Department of Genetics and Cell Biology, College of Life Sciences, State Key Laboratory of Medicinal Chemical Biology, Nankai University, Tianjin, China.
TBC1D20 deficiency causes Warburg Micro Syndrome in humans, characterized by multiple eye abnormalities, severe intellectual disability, and abnormal sexual development, but the molecular mechanisms remain unknown. Here, we identify TBC1D20 as a novel Rab11 GTPase-activating protein that coordinates vesicle transport and actin remodeling to regulate ciliogenesis. Depletion of TBC1D20 promotes Rab11 vesicle accumulation and actin deconstruction around the centrosome, facilitating the initiation of ciliogenesis even in cycling cells.
View Article and Find Full Text PDFPan Afr Med J
January 2025
Department of Ophthalmology, Faculty of Medicine Universitas Airlangga, Dr. Soetomo General Academic Hospital, Surabaya, Indonesia.
Anterior segment dysgenesis exerts its influence on a diverse array of ocular structures, encompassing the cornea, iris, ciliary body, anterior chamber and lens. We present a 20-month-old boy with bilateral corneal opacity. The visual acuity (VA) was 6/480 in both eyes.
View Article and Find Full Text PDFGenes (Basel)
January 2025
Ophthalmology Department, Federal University of São Paulo, São Paulo 04039-032, Brazil.
Background: Nance-Horan syndrome (NHS) is a rare, frequently underdiagnosed, X-linked disease caused by mutations in the NHS gene. In males, it causes bilateral dense pediatric cataracts, dental anomalies, and facial dysmorphisms. Females traditionally have a more subtle phenotype with discrete lens opacities as an isolated feature.
View Article and Find Full Text PDFVision (Basel)
January 2025
Sztárai Institute, University of Tokaj, 3950 Sárospatak, Hungary.
Retinitis pigmentosa (RP) encompasses inherited retinal dystrophies, appearing either as an isolated eye condition or as part of a broader systemic syndrome, known as syndromic RP. In these cases, RP includes systemic symptoms impacting other organs, complicating diagnosis and management. This review highlights key systemic syndromes linked with RP, such as Usher, Bardet-Biedl, and Alström syndromes, focusing on genetic mutations, inheritance, and clinical symptoms.
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