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A Case of Chorioretinal Coloboma in a Patient with Achondroplasia

Achondroplasia is a congenital disorder resulting from a specific disturbance in endochondral bone formation. The ophthalmic features reportedly associated with achondroplasia are telecanthus, exotropia, inferior oblique overaction, angle anomalies and cone-rod dystrophy. This is first report of cho...

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Autores principales: Yoo, Woong Sun, Park, Yeon Jung, Yoo, Ji Myung
Formato: Texto
Lenguaje:English
Publicado: The Korean Ophthalmological Society 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2955274/
https://www.ncbi.nlm.nih.gov/pubmed/21052511
http://dx.doi.org/10.3341/kjo.2010.24.5.302
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author Yoo, Woong Sun
Park, Yeon Jung
Yoo, Ji Myung
author_facet Yoo, Woong Sun
Park, Yeon Jung
Yoo, Ji Myung
author_sort Yoo, Woong Sun
collection PubMed
description Achondroplasia is a congenital disorder resulting from a specific disturbance in endochondral bone formation. The ophthalmic features reportedly associated with achondroplasia are telecanthus, exotropia, inferior oblique overaction, angle anomalies and cone-rod dystrophy. This is first report of chorioretinal coloboma in achondroplasia. An 8-year-old female was diagnosed with a developmental delay, known as achondroplasia, seven months after birth. Upon her initial visit, visual acuity was 0.3 in both eyes. The patient had telecanthus but normal ocular motility. Findings were normal upon anterior segment examination. Fundus examination of both eyes revealed about 1,500 µm sized chorioretinal coloboma inferior to the optic nerve head. Upon fluorescent angiography, there was chorioretinal coloboma without any other lesions. Afterward, there was no change in the fundus lesion, and best corrected visual acuity was 0.6 in both eyes. Chorioretinal coloboma is associated with choroidal and retinal detachment. As chorioretinal coloboma and achondroplasia are developmental disorders in the embryonic stage, early detection and regular ophthalmologic examination would be essential in patients with achondroplasia.
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spelling pubmed-29552742010-11-04 A Case of Chorioretinal Coloboma in a Patient with Achondroplasia Yoo, Woong Sun Park, Yeon Jung Yoo, Ji Myung Korean J Ophthalmol Case Report Achondroplasia is a congenital disorder resulting from a specific disturbance in endochondral bone formation. The ophthalmic features reportedly associated with achondroplasia are telecanthus, exotropia, inferior oblique overaction, angle anomalies and cone-rod dystrophy. This is first report of chorioretinal coloboma in achondroplasia. An 8-year-old female was diagnosed with a developmental delay, known as achondroplasia, seven months after birth. Upon her initial visit, visual acuity was 0.3 in both eyes. The patient had telecanthus but normal ocular motility. Findings were normal upon anterior segment examination. Fundus examination of both eyes revealed about 1,500 µm sized chorioretinal coloboma inferior to the optic nerve head. Upon fluorescent angiography, there was chorioretinal coloboma without any other lesions. Afterward, there was no change in the fundus lesion, and best corrected visual acuity was 0.6 in both eyes. Chorioretinal coloboma is associated with choroidal and retinal detachment. As chorioretinal coloboma and achondroplasia are developmental disorders in the embryonic stage, early detection and regular ophthalmologic examination would be essential in patients with achondroplasia. The Korean Ophthalmological Society 2010-10 2010-10-05 /pmc/articles/PMC2955274/ /pubmed/21052511 http://dx.doi.org/10.3341/kjo.2010.24.5.302 Text en © 2010 The Korean Ophthalmological Society http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Yoo, Woong Sun
Park, Yeon Jung
Yoo, Ji Myung
A Case of Chorioretinal Coloboma in a Patient with Achondroplasia
title A Case of Chorioretinal Coloboma in a Patient with Achondroplasia
title_full A Case of Chorioretinal Coloboma in a Patient with Achondroplasia
title_fullStr A Case of Chorioretinal Coloboma in a Patient with Achondroplasia
title_full_unstemmed A Case of Chorioretinal Coloboma in a Patient with Achondroplasia
title_short A Case of Chorioretinal Coloboma in a Patient with Achondroplasia
title_sort case of chorioretinal coloboma in a patient with achondroplasia
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2955274/
https://www.ncbi.nlm.nih.gov/pubmed/21052511
http://dx.doi.org/10.3341/kjo.2010.24.5.302
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