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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2019
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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. |
format | Online Article Text |
id | pubmed-6426475 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Wolters Kluwer Health |
record_format | MEDLINE/PubMed |
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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