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Case Report: Combined Cataract Surgery and Minimally Invasive Glaucoma Surgery Provide an Alternative Treatment Approach for Lowe Syndrome
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>A) of the oculocer...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9283680/ https://www.ncbi.nlm.nih.gov/pubmed/35847784 http://dx.doi.org/10.3389/fmed.2022.913229 |
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author | Wang, Chen Zhang, Wenzhe Wang, Leyi Liu, Wenhui Guo, Hui |
author_facet | Wang, Chen Zhang, Wenzhe Wang, Leyi Liu, Wenhui Guo, Hui |
author_sort | Wang, Chen |
collection | PubMed |
description | 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>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° 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. |
format | Online Article Text |
id | pubmed-9283680 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-92836802022-07-16 Case Report: Combined Cataract Surgery and Minimally Invasive Glaucoma Surgery Provide an Alternative Treatment Approach for Lowe Syndrome Wang, Chen Zhang, Wenzhe Wang, Leyi Liu, Wenhui Guo, Hui Front Med (Lausanne) Medicine 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>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° 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. Frontiers Media S.A. 2022-07-01 /pmc/articles/PMC9283680/ /pubmed/35847784 http://dx.doi.org/10.3389/fmed.2022.913229 Text en Copyright © 2022 Wang, Zhang, Wang, Liu and Guo. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Medicine Wang, Chen Zhang, Wenzhe Wang, Leyi Liu, Wenhui Guo, Hui Case Report: Combined Cataract Surgery and Minimally Invasive Glaucoma Surgery Provide an Alternative Treatment Approach for Lowe Syndrome |
title | Case Report: Combined Cataract Surgery and Minimally Invasive Glaucoma Surgery Provide an Alternative Treatment Approach for Lowe Syndrome |
title_full | Case Report: Combined Cataract Surgery and Minimally Invasive Glaucoma Surgery Provide an Alternative Treatment Approach for Lowe Syndrome |
title_fullStr | Case Report: Combined Cataract Surgery and Minimally Invasive Glaucoma Surgery Provide an Alternative Treatment Approach for Lowe Syndrome |
title_full_unstemmed | Case Report: Combined Cataract Surgery and Minimally Invasive Glaucoma Surgery Provide an Alternative Treatment Approach for Lowe Syndrome |
title_short | Case Report: Combined Cataract Surgery and Minimally Invasive Glaucoma Surgery Provide an Alternative Treatment Approach for Lowe Syndrome |
title_sort | case report: combined cataract surgery and minimally invasive glaucoma surgery provide an alternative treatment approach for lowe syndrome |
topic | Medicine |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9283680/ https://www.ncbi.nlm.nih.gov/pubmed/35847784 http://dx.doi.org/10.3389/fmed.2022.913229 |
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