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Bilateral congenital macular coloboma and cataract: A case report

RATIONALE: The case with congenital macular coloboma and cataract was rarely reported, and the pathogenic gene of the disease is still not clear. Moreover, it is difficult to improve the visual acuity of the eye with this disease. PATIENT CONCERNS: An 11-year-old boy presented low visual acuity and...

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Autores principales: Zhang, Canwei, Wu, Peng, Wang, Luping, Gao, Jing, Huang, Xudong, Jiang, Yaqin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6426475/
https://www.ncbi.nlm.nih.gov/pubmed/30882657
http://dx.doi.org/10.1097/MD.0000000000014803
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author Zhang, Canwei
Wu, Peng
Wang, Luping
Gao, Jing
Huang, Xudong
Jiang, Yaqin
author_facet Zhang, Canwei
Wu, Peng
Wang, Luping
Gao, Jing
Huang, Xudong
Jiang, Yaqin
author_sort Zhang, Canwei
collection PubMed
description RATIONALE: The case with congenital macular coloboma and cataract was rarely reported, and the pathogenic gene of the disease is still not clear. Moreover, it is difficult to improve the visual acuity of the eye with this disease. PATIENT CONCERNS: An 11-year-old boy presented low visual acuity and horizontal nystagmus in both eyes. Ophthalmologic examination showed the patient with bilateral congenital coloboma and cataract. The visual acuity of the patient improved slightly after cataract surgery. Heterozygous mutations of frizzled-4 (FZD4) and nucleotide-binding oligomerization domain-containing protein 2 (NOD2) were identified by next-generation sequencing in this case. DIAGNOSIS: Congenital macular coloboma and cataract of both eyes. INTERVENTIONS: We performed the standard phacoemulsification and intraocular lens implantation on both eyes of the patient for the treatment of congenital cataract, and then followed up the fundus lesions regularly. OUTCOMES: Cataract surgery may improve the visual acuity of the eyes with congenital macular coloboma and cataract at some degree, but the vision of this patient was still very poor postoperatively. Furthermore, the heterozygous mutations of FZD4 and NOD2 were found in this patient. LESSONS: Cataract surgery may improve the visual acuity of the eyes with congenital macular coloboma and cataract at some degree, and heterozygous mutations of FZD4 and NOD2 may be involved in the occurrence of congenital macular coloboma and cataract.
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spelling pubmed-64264752019-04-15 Bilateral congenital macular coloboma and cataract: A case report Zhang, Canwei Wu, Peng Wang, Luping Gao, Jing Huang, Xudong Jiang, Yaqin Medicine (Baltimore) Research Article RATIONALE: The case with congenital macular coloboma and cataract was rarely reported, and the pathogenic gene of the disease is still not clear. Moreover, it is difficult to improve the visual acuity of the eye with this disease. PATIENT CONCERNS: An 11-year-old boy presented low visual acuity and horizontal nystagmus in both eyes. Ophthalmologic examination showed the patient with bilateral congenital coloboma and cataract. The visual acuity of the patient improved slightly after cataract surgery. Heterozygous mutations of frizzled-4 (FZD4) and nucleotide-binding oligomerization domain-containing protein 2 (NOD2) were identified by next-generation sequencing in this case. DIAGNOSIS: Congenital macular coloboma and cataract of both eyes. INTERVENTIONS: We performed the standard phacoemulsification and intraocular lens implantation on both eyes of the patient for the treatment of congenital cataract, and then followed up the fundus lesions regularly. OUTCOMES: Cataract surgery may improve the visual acuity of the eyes with congenital macular coloboma and cataract at some degree, but the vision of this patient was still very poor postoperatively. Furthermore, the heterozygous mutations of FZD4 and NOD2 were found in this patient. LESSONS: Cataract surgery may improve the visual acuity of the eyes with congenital macular coloboma and cataract at some degree, and heterozygous mutations of FZD4 and NOD2 may be involved in the occurrence of congenital macular coloboma and cataract. Wolters Kluwer Health 2019-03-15 /pmc/articles/PMC6426475/ /pubmed/30882657 http://dx.doi.org/10.1097/MD.0000000000014803 Text en Copyright © 2019 the Author(s). Published by Wolters Kluwer Health, Inc. http://creativecommons.org/licenses/by-nc-nd/4.0 This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc-nd/4.0
spellingShingle Research Article
Zhang, Canwei
Wu, Peng
Wang, Luping
Gao, Jing
Huang, Xudong
Jiang, Yaqin
Bilateral congenital macular coloboma and cataract: A case report
title Bilateral congenital macular coloboma and cataract: A case report
title_full Bilateral congenital macular coloboma and cataract: A case report
title_fullStr Bilateral congenital macular coloboma and cataract: A case report
title_full_unstemmed Bilateral congenital macular coloboma and cataract: A case report
title_short Bilateral congenital macular coloboma and cataract: A case report
title_sort bilateral congenital macular coloboma and cataract: a case report
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6426475/
https://www.ncbi.nlm.nih.gov/pubmed/30882657
http://dx.doi.org/10.1097/MD.0000000000014803
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