{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T16:00:21Z","timestamp":1753891221906,"version":"3.41.2"},"reference-count":13,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:p>We describe the case of a 4-month-old boy who presented with bilateral congenital cataract and high intraocular pressure (IOP) in the left eye, followed by mental retardation and delayed motor development. Genetic investigation revealed the boy had a splicing variant (c.940-11G&amp;gt;A) of the oculocerebrorenal syndrome of Lowe (OCRL) gene. The boy underwent a lensectomy for congenital cataract in his right eye, and lensectomy combined with a 360\u00b0 suture trabeculotomy to remove the clouded lens and to control IOP of the left eye. During postoperative one-and-a-half-year follow-up, the boy exhibited an improved visual acuity and a well-controlled IOP without the use of topical IOP-lowering medications. Lowe syndrome is a rare multisystemic disorder that is diagnosed through clinical manifestation and genetic testing. The possibility of Lowe syndrome should be considered in patients presenting with typical triad, and genetic analysis should be performed in time to confirm the diagnosis. We recommend combined cataract surgery and minimally invasive glaucoma surgery (MIGS) as a safe, feasible, and efficient method to treat congenital cataract and glaucoma in Lowe syndrome patients.<\/jats:p>","DOI":"10.3389\/fmed.2022.913229","type":"journal-article","created":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T04:56:10Z","timestamp":1656651370000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Case Report: Combined Cataract Surgery and Minimally Invasive Glaucoma Surgery Provide an Alternative Treatment Approach for Lowe Syndrome"],"prefix":"10.3389","volume":"9","author":[{"given":"Chen","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenzhe","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leyi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenhui","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Guo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,7,1]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"164","DOI":"10.1001\/archpedi.1952.02040060030004","article-title":"Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity.","volume":"83","author":"Lowe","year":"1952","journal-title":"AMA Am J Dis Child."},{"key":"B2","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/1750-1172-1-16","article-title":"Lowe syndrome.","volume":"1","author":"Loi","year":"2006","journal-title":"Orphanet J Rare Dis."},{"key":"B3","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1038\/358239a0","article-title":"The Lowe\u2019s oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase.","volume":"358","author":"Attree","year":"1992","journal-title":"Nature."},{"key":"B4","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1111\/tra.12160","article-title":"The cellular and physiological functions of the Lowe syndrome protein OCRL1.","volume":"15","author":"Mehta","year":"2014","journal-title":"Traffic."},{"key":"B5","doi-asserted-by":"crossref","first-page":"1234","DOI":"10.1001\/archopht.121.9.1234","article-title":"Cataracts and glaucoma in patients with oculocerebrorenal syndrome.","volume":"121","author":"Kruger","year":"2003","journal-title":"Arch Ophthalmol."},{"key":"B6","doi-asserted-by":"crossref","first-page":"1046","DOI":"10.1016\/S0161-6420(86)33622-4","article-title":"Pathogenesis of cataracts in patients with Lowe\u2019s syndrome.","volume":"93","author":"Tripathi","year":"1986","journal-title":"Ophthalmology."},{"key":"B7","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1097\/01.ijg.0000158850.07732.05","article-title":"Glaucoma with the oculocerebrorenal syndrome of Lowe.","volume":"14","author":"Walton","year":"2005","journal-title":"J Glaucoma."},{"key":"B8","first-page":"226","article-title":"Identification of OCRL1 mutations in two Taiwanese Lowe syndrome patients.","volume":"46","author":"Chou","year":"2005","journal-title":"Acta Paediatr Taiwan."},{"key":"B9","first-page":"1237","article-title":"Management of congenital cataract with different technique: phacoemulsification I\/A and 23-gauge system.","volume":"10","author":"Huang","year":"2010","journal-title":"Int J Ophthalmol."},{"key":"B10","doi-asserted-by":"publisher","first-page":"966","DOI":"10.1177\/1120672120920544","article-title":"Oculocerebrorenal syndrome of Lowe: survey of ophthalmic presentations and management.","volume":"30","author":"Ma","year":"2020","journal-title":"Eur J Ophthalmol."},{"key":"B11","doi-asserted-by":"publisher","first-page":"2201","DOI":"10.1007\/s00467-016-3343-3","article-title":"The oculocerebrorenal syndrome of Lowe: an update.","volume":"31","author":"B\u00f6kenkamp","year":"2016","journal-title":"Pediatr Nephrol."},{"key":"B12","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1097\/ICU.0000000000000827","article-title":"Minimally invasive glaucoma surgery in childhood glaucoma.","volume":"33","author":"Go","year":"2022","journal-title":"Curr Opin Ophthalmol."},{"key":"B13","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1002\/humu.21391","article-title":"From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.","volume":"32","author":"Hichri","year":"2011","journal-title":"Hum Mutat."}],"container-title":["Frontiers in Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2022.913229\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T04:56:20Z","timestamp":1656651380000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2022.913229\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,1]]},"references-count":13,"alternative-id":["10.3389\/fmed.2022.913229"],"URL":"https:\/\/doi.org\/10.3389\/fmed.2022.913229","relation":{},"ISSN":["2296-858X"],"issn-type":[{"type":"electronic","value":"2296-858X"}],"subject":[],"published":{"date-parts":[[2022,7,1]]},"article-number":"913229"}}