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Achondroplasia and Macular Coloboma
Achondroplasia is an autosomal dominant congenital disorder of enchondral ossification. It is clinically characterized by low stature, craniofacial deformity, and vertebral malformation. Associated ophthalmic features include telecanthus, exotropia, angle anomalies, and cone-rod dystrophy. A 24-year...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Medknow Publications & Media Pvt Ltd
2015
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4660545/ https://www.ncbi.nlm.nih.gov/pubmed/26692730 http://dx.doi.org/10.4103/0974-9233.167819 |
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author | Ahoor, M. H. Amizadeh, Y. Sorkhabi, R. |
author_facet | Ahoor, M. H. Amizadeh, Y. Sorkhabi, R. |
author_sort | Ahoor, M. H. |
collection | PubMed |
description | Achondroplasia is an autosomal dominant congenital disorder of enchondral ossification. It is clinically characterized by low stature, craniofacial deformity, and vertebral malformation. Associated ophthalmic features include telecanthus, exotropia, angle anomalies, and cone-rod dystrophy. A 24-year-old male presented with decreased vision bilaterally and typical achondroplasia. The best corrected visual acuity was 20/70 in both eyes. Anterior segment examination was normal. Fundus examination revealed a well-demarcated circular paramacular lesion in both eyes. As macular coloboma and achondroplasia are developmental disorders, the funduscopic examination is required in patients with achondroplasia. |
format | Online Article Text |
id | pubmed-4660545 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-46605452015-12-11 Achondroplasia and Macular Coloboma Ahoor, M. H. Amizadeh, Y. Sorkhabi, R. Middle East Afr J Ophthalmol Case Report Achondroplasia is an autosomal dominant congenital disorder of enchondral ossification. It is clinically characterized by low stature, craniofacial deformity, and vertebral malformation. Associated ophthalmic features include telecanthus, exotropia, angle anomalies, and cone-rod dystrophy. A 24-year-old male presented with decreased vision bilaterally and typical achondroplasia. The best corrected visual acuity was 20/70 in both eyes. Anterior segment examination was normal. Fundus examination revealed a well-demarcated circular paramacular lesion in both eyes. As macular coloboma and achondroplasia are developmental disorders, the funduscopic examination is required in patients with achondroplasia. Medknow Publications & Media Pvt Ltd 2015 /pmc/articles/PMC4660545/ /pubmed/26692730 http://dx.doi.org/10.4103/0974-9233.167819 Text en Copyright: © Middle East African Journal of Ophthalmology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms. |
spellingShingle | Case Report Ahoor, M. H. Amizadeh, Y. Sorkhabi, R. Achondroplasia and Macular Coloboma |
title | Achondroplasia and Macular Coloboma |
title_full | Achondroplasia and Macular Coloboma |
title_fullStr | Achondroplasia and Macular Coloboma |
title_full_unstemmed | Achondroplasia and Macular Coloboma |
title_short | Achondroplasia and Macular Coloboma |
title_sort | achondroplasia and macular coloboma |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4660545/ https://www.ncbi.nlm.nih.gov/pubmed/26692730 http://dx.doi.org/10.4103/0974-9233.167819 |
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