Mutations in effectors of the hedgehog signaling pathway are responsible for a wide variety of ocular developmental anomalies. These range from massive malformations of the brain and ocular primordia, not always compatible with postnatal life, to subtle but damaging functional effects on specific eye components. This review will concentrate on the effects and effectors of the major vertebrate hedgehog ligand for eye and brain formation, Sonic hedgehog (SHH), in tissues that constitute the eye directly and also in those tissues that exert indirect influence on eye formation. After a brief overview of human eye development, the many roles of the SHH signaling pathway during both early and later morphogenetic processes in the brain and then eye and periocular primordia will be evoked. Some of the unique molecular biology of this pathway in vertebrates, particularly ciliary signal transduction, will also be broached within this developmental cellular context.
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http://dx.doi.org/10.1007/s00439-018-1918-8 | DOI Listing |
Int Ophthalmol
December 2024
Department of Ophthalmology, Chengdu First People's Hospital/ Chengdu Integrated TCM and Western Medicine Hospital, No.18 Wanxiang North Road, Chengdu, 610041, Sichuan Province, China.
Purposes: Congenital microphthalmia with orbital cyst (CMOC) is a severe ocular developmental malformation. This article aims to provide assistance for genetic counseling and further exploration of more effective treatments.
Methods: A combined systematic search of PubMed electronic database by using Boolean operators AND and OR was conducted, choosing the following keywords: "microphthalmos", "microphthalmia", "cyst", "morbidity", "congenital cystic eye", "histopathological", "molecular genetics", "syndrome", "treatment", "therapy", "surgery" and "surgical" etc.
bioRxiv
December 2024
Laboratory of Neurovascular Control of Homeostasis, Department of Cellular and Molecular Physiology, Yale School of Medicine, New Haven, CT, USA.
Obesity, a growing pandemic in Western societies, significantly impacts metabolic health and contributes to visual disorders. While the systemic consequences of obesity, such as chronic inflammation and insulin resistance, are well-studied in adults, its early-life effects on retinal health remain underexplored. Using a maternal Western Diet (WD) exposure model, we investigated the developmental impact of early-life metabolic disturbances on retinal and cognitive function.
View Article and Find Full Text PDFJ Extracell Vesicles
December 2024
Department of Cell and Developmental Biology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA.
Ophthalmic Genet
December 2024
Department of Ophthalmology, Université de Montréal, Montreal, Québec, Canada.
Introduction: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) is a recently described syndromic disease linked to genetic variants. We present a novel variant associated with a phenotype of NEDDFSA in a pediatric patient presenting with multiple anomalies including bilateral congenital ptosis and blepharophimosis, floppy eyelids, telecanthus, downward palpebral slants, myopia, cryptorchidism, hallux valgus and developmental delay.
Methods: Genetic testing performed on a large panel revealed a likely pathogenic variant in the gene (heterozygous, c.
Oman J Ophthalmol
October 2024
Department of Neurology, Star Hospitals, Hyderabad, Telangana, India.
Neuro-optometric rehabilitation has a broad range of potential rehabilitative applications in neurological and developmental conditions affecting the eye. There is a dearth of evidence supporting its effectiveness, especially in adults. To address this issue, we systematically reviewed literature published in English between January 2000 and June 2022, obtained from search engines such as PubMed, EMBASE, Scopus, and CINAHL, using keywords including "neuro optometry," "rehabilitation" or a related term, and "oculomotor problem" or "neurological problem" or a related term.
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