Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders

Monogenic syndromic disorders frequently feature ocular manifestations, one of which is glaucoma. In many cases, glaucoma in children may go undetected, especially in those that have other severe systemic conditions that affect other parts of the eye and the body. Similarly, glaucoma may be the firs...

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Vydáno v:	Genes Ročník 12; číslo 9; s. 1403
Hlavní autoři:	Balikov, Daniel A., Jacobson, Adam, Prasov, Lev
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Switzerland MDPI AG 11.09.2021 MDPI
Témata:	Aniridia Aniridia - genetics Aniridia - pathology Anterior segment dysgenesis syndrome Collagen Collagen Diseases - complications Collagen Diseases - genetics Collagen Diseases - pathology Cornea Disease Enzymes Extracellular matrix Eye Abnormalities - genetics Eye Abnormalities - pathology Eye Diseases, Hereditary - genetics Eye Diseases, Hereditary - pathology eyes Gene expression Glaucoma Glaucoma - etiology Glaucoma - genetics Glaucoma - pathology Glaucoma, Angle-Closure - complications Glaucoma, Angle-Closure - genetics Glaucoma, Angle-Closure - pathology Hearing loss Humans Hyperopia - complications Hyperopia - genetics Hyperopia - pathology Immune System Diseases - complications Immune System Diseases - genetics Immune System Diseases - pathology Immunogenetics Metabolic Diseases - complications Metabolic Diseases - genetics Metabolic Diseases - pathology Metabolic disorders Microphthalmos - complications Microphthalmos - genetics Microphthalmos - pathology pathogenesis Patients Rare diseases Review Syndrome therapeutics Vascular Diseases - complications Vascular Diseases - genetics Vascular Diseases - pathology anterior segment dysgenesis Singleton–Merten syndrome Aicardi–Goutieres syndrome Axenfeld–Rieger syndrome juvenile open-angle glaucoma mucopolysaccharidosis Peter’s anomaly osteogenesis imperfecta pediatric glaucoma aniridia Stickler syndrome nanophthalmos
ISSN:	2073-4425, 2073-4425
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Popis
Shrnutí:	Monogenic syndromic disorders frequently feature ocular manifestations, one of which is glaucoma. In many cases, glaucoma in children may go undetected, especially in those that have other severe systemic conditions that affect other parts of the eye and the body. Similarly, glaucoma may be the first presenting sign of a systemic syndrome. Awareness of syndromes associated with glaucoma is thus critical both for medical geneticists and ophthalmologists. In this review, we highlight six categories of disorders that feature glaucoma and other ocular or systemic manifestations: anterior segment dysgenesis syndromes, aniridia, metabolic disorders, collagen/vascular disorders, immunogenetic disorders, and nanophthalmos. The genetics, ocular and systemic features, and current and future treatment strategies are discussed. Findings from rare diseases also uncover important genes and pathways that may be involved in more common forms of glaucoma, and potential novel therapeutic strategies to target these pathways.
Bibliografie:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 ObjectType-Review-3 content type line 23
ISSN:	2073-4425 2073-4425
DOI:	10.3390/genes12091403