Cargando…
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...
Autores principales: | , , , |
---|---|
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 |
_version_ | 1783597641580412928 |
---|---|
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. |
format | Online Article Text |
id | pubmed-7574458 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT yooyungju ocularcolobomacombinedwithcleftlipandpalateacasereport AT hansangbeom ocularcolobomacombinedwithcleftlipandpalateacasereport AT yangheekyung ocularcolobomacombinedwithcleftlipandpalateacasereport AT hwangjeongmin ocularcolobomacombinedwithcleftlipandpalateacasereport |