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A Rare Case of Achondroplasia With Bilateral Developmental Cataract
Enchondral ossification disorders of autosomal dominant congenital origin include achondroplasia, among others. Low stature, craniofacial deformity, and spinal abnormality are its clinical hallmarks. Some of the associated ocular characteristics are telecanthus, exotropia, angle abnormalities, and c...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9951635/ https://www.ncbi.nlm.nih.gov/pubmed/36843807 http://dx.doi.org/10.7759/cureus.34191 |
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author | Bagewadi, Rasika Tidake, Pravin Jeria, Sandhya Wanjari, Mayur B |
author_facet | Bagewadi, Rasika Tidake, Pravin Jeria, Sandhya Wanjari, Mayur B |
author_sort | Bagewadi, Rasika |
collection | PubMed |
description | Enchondral ossification disorders of autosomal dominant congenital origin include achondroplasia, among others. Low stature, craniofacial deformity, and spinal abnormality are its clinical hallmarks. Some of the associated ocular characteristics are telecanthus, exotropia, angle abnormalities, and cone-rod dystrophy. A 25-year-old female presented to the Ophthalmology outpatient department (OPD) with the classical clinical signs of achondroplasia and developmental cataracts in both eyes. She also had associated esotropia in the left eye. Achondroplasia patients should be screened for developmental cataracts to enable timely intervention and management. |
format | Online Article Text |
id | pubmed-9951635 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-99516352023-02-25 A Rare Case of Achondroplasia With Bilateral Developmental Cataract Bagewadi, Rasika Tidake, Pravin Jeria, Sandhya Wanjari, Mayur B Cureus Genetics Enchondral ossification disorders of autosomal dominant congenital origin include achondroplasia, among others. Low stature, craniofacial deformity, and spinal abnormality are its clinical hallmarks. Some of the associated ocular characteristics are telecanthus, exotropia, angle abnormalities, and cone-rod dystrophy. A 25-year-old female presented to the Ophthalmology outpatient department (OPD) with the classical clinical signs of achondroplasia and developmental cataracts in both eyes. She also had associated esotropia in the left eye. Achondroplasia patients should be screened for developmental cataracts to enable timely intervention and management. Cureus 2023-01-25 /pmc/articles/PMC9951635/ /pubmed/36843807 http://dx.doi.org/10.7759/cureus.34191 Text en Copyright © 2023, Bagewadi et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Genetics Bagewadi, Rasika Tidake, Pravin Jeria, Sandhya Wanjari, Mayur B A Rare Case of Achondroplasia With Bilateral Developmental Cataract |
title | A Rare Case of Achondroplasia With Bilateral Developmental Cataract |
title_full | A Rare Case of Achondroplasia With Bilateral Developmental Cataract |
title_fullStr | A Rare Case of Achondroplasia With Bilateral Developmental Cataract |
title_full_unstemmed | A Rare Case of Achondroplasia With Bilateral Developmental Cataract |
title_short | A Rare Case of Achondroplasia With Bilateral Developmental Cataract |
title_sort | rare case of achondroplasia with bilateral developmental cataract |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9951635/ https://www.ncbi.nlm.nih.gov/pubmed/36843807 http://dx.doi.org/10.7759/cureus.34191 |
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