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Ocular coloboma combined with cleft lip and palate: a case report

BACKGROUND: Ocular coloboma is an excavation of ocular structures that occurs due to abnormal fusion of the embryonic optic fissure. Further, cleft lip/palate (CL/P), a congenital midline abnormality, is caused by a defect in the fusion of the frontonasal, maxillary, and mandibular prominences. No s...

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Autores principales: Yoo, Yung Ju, Han, Sang Beom, Yang, Hee Kyung, Hwang, Jeong-Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7574458/
https://www.ncbi.nlm.nih.gov/pubmed/33076860
http://dx.doi.org/10.1186/s12886-020-01696-3
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author Yoo, Yung Ju
Han, Sang Beom
Yang, Hee Kyung
Hwang, Jeong-Min
author_facet Yoo, Yung Ju
Han, Sang Beom
Yang, Hee Kyung
Hwang, Jeong-Min
author_sort Yoo, Yung Ju
collection PubMed
description BACKGROUND: Ocular coloboma is an excavation of ocular structures that occurs due to abnormal fusion of the embryonic optic fissure. Further, cleft lip/palate (CL/P), a congenital midline abnormality, is caused by a defect in the fusion of the frontonasal, maxillary, and mandibular prominences. No study has reported the association between these two phenotypes in the absence of other systemic abnormalities. We present a case of ocular coloboma along with CL/P and without other neurological abnormalities. CASE PRESENTATION: A 5-year-old Asian boy presented with decreased visual acuity in his right eye. Physical examination revealed no abnormal findings except CL/P, which was surgically corrected at the age of 9 months. Best-corrected visual acuity was 20/60 in the right eye and 20/25 in the left eye. Anterior segment examination revealed iris coloboma in the inferior quadrant of his right eye as well as a large inferonasal optic disc and chorioretinal coloboma in the same eye. He was prescribed glasses based on his cycloplegic refractive errors and part-time occlusion of the left eye was recommended. After 3 months, best-corrected visual acuity improved to 20/30 in the right eye. CONCLUSION: The association of ocular coloboma should be kept in mind when encountering a patient with CL/P without other neurological or systemic abnormalities.
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spelling pubmed-75744582020-10-20 Ocular coloboma combined with cleft lip and palate: a case report Yoo, Yung Ju Han, Sang Beom Yang, Hee Kyung Hwang, Jeong-Min BMC Ophthalmol Case Report BACKGROUND: Ocular coloboma is an excavation of ocular structures that occurs due to abnormal fusion of the embryonic optic fissure. Further, cleft lip/palate (CL/P), a congenital midline abnormality, is caused by a defect in the fusion of the frontonasal, maxillary, and mandibular prominences. No study has reported the association between these two phenotypes in the absence of other systemic abnormalities. We present a case of ocular coloboma along with CL/P and without other neurological abnormalities. CASE PRESENTATION: A 5-year-old Asian boy presented with decreased visual acuity in his right eye. Physical examination revealed no abnormal findings except CL/P, which was surgically corrected at the age of 9 months. Best-corrected visual acuity was 20/60 in the right eye and 20/25 in the left eye. Anterior segment examination revealed iris coloboma in the inferior quadrant of his right eye as well as a large inferonasal optic disc and chorioretinal coloboma in the same eye. He was prescribed glasses based on his cycloplegic refractive errors and part-time occlusion of the left eye was recommended. After 3 months, best-corrected visual acuity improved to 20/30 in the right eye. CONCLUSION: The association of ocular coloboma should be kept in mind when encountering a patient with CL/P without other neurological or systemic abnormalities. BioMed Central 2020-10-19 /pmc/articles/PMC7574458/ /pubmed/33076860 http://dx.doi.org/10.1186/s12886-020-01696-3 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Yoo, Yung Ju
Han, Sang Beom
Yang, Hee Kyung
Hwang, Jeong-Min
Ocular coloboma combined with cleft lip and palate: a case report
title Ocular coloboma combined with cleft lip and palate: a case report
title_full Ocular coloboma combined with cleft lip and palate: a case report
title_fullStr Ocular coloboma combined with cleft lip and palate: a case report
title_full_unstemmed Ocular coloboma combined with cleft lip and palate: a case report
title_short Ocular coloboma combined with cleft lip and palate: a case report
title_sort ocular coloboma combined with cleft lip and palate: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7574458/
https://www.ncbi.nlm.nih.gov/pubmed/33076860
http://dx.doi.org/10.1186/s12886-020-01696-3
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