{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T18:55:33Z","timestamp":1791831333752,"version":"4.3.4"},"reference-count":205,"publisher":"Public Library of Science (PLoS)","issue":"2","license":[{"start":{"date-parts":[[2024,2,22]],"date-time":"2024-02-22T00:00:00Z","timestamp":1708560000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["K23EY034893, EY002162"],"award-info":[{"award-number":["K23EY034893, EY002162"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:p>\n                    Many forms of childhood glaucoma have been associated with underlying genetic changes, and variants in many genes have been described. Currently, testing is variable as there are no widely accepted guidelines for testing. This systematic review aimed to summarize the literature describing genetic changes and testing practices in childhood glaucoma. This systematic review was conducted in accordance with the Preferred Reporting Items for Systematic review and Meta-Analyses (PRISMA) 2020 guidelines and registered with Prospero (ID CRD42023400467). A comprehensive review of Pubmed, Embase, and Cochrane databases was performed from inception through March 2, 2023 using the search terms: (glaucoma) AND (pediatric OR childhood OR congenital OR child OR infant OR infantile) AND (gene OR genetic OR genotype OR locus OR genomic OR mutation OR variant OR test OR screen OR panel). Information was extracted regarding genetic variants including genotype-phenotype correlation. Risk of bias was assessed using the Newcastle-Ottawa Scale. Of 1,916 records screened, 196 studies met inclusion criteria and 53 genes were discussed. Among study populations, mean age\u00b1SD at glaucoma diagnosis was 8.94\u00b19.54 years and 50.4% were male. The most common gene discussed was\n                    <jats:italic>CYP1B1<\/jats:italic>\n                    , evaluated in 109 (55.6%) studies.\n                    <jats:italic>CYP1B1<\/jats:italic>\n                    variants were associated with region and population-specific prevalence ranging from 5% to 86% among those with primary congenital glaucoma.\n                    <jats:italic>MYOC<\/jats:italic>\n                    variants were discussed in 31 (15.8%) studies with prevalence up to 36% among patients with juvenile open angle glaucoma.\n                    <jats:italic>FOXC1<\/jats:italic>\n                    variants were discussed in 25 (12.8%) studies, which demonstrated phenotypic severity dependent on degree of gene expression and type of mutation. Overall risk of bias was low; the most common domains of bias were selection and comparability. Numerous genes and genetic changes have been associated with childhood glaucoma. Understanding the most common genes as well as potential genotype-phenotype correlation has the potential to improve diagnostic and prognostic outcomes for children with glaucoma.\n                  <\/jats:p>","DOI":"10.1371\/journal.pone.0298883","type":"journal-article","created":{"date-parts":[[2024,2,22]],"date-time":"2024-02-22T13:31:55Z","timestamp":1708608715000},"page":"e0298883","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":15,"title":["Genetic changes and testing associated with childhood glaucoma: A systematic review"],"prefix":"10.1371","volume":"19","author":[{"given":"Anika","family":"Kumar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Han","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3945-2077","authenticated-orcid":true,"given":"Julius 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