Cargando…
Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child
Achondroplasia is an autosomal dominant congenital disorder of endochondral ossification, induced by abnormal activity of fibroblast growth factor receptor 3. Affected individuals have short stature and often present with neurological and skeletal complications. Most have normal intelligence. Ocular...
Autor principal: | |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10697276/ http://dx.doi.org/10.4103/ojo.ojo_42_23 |
_version_ | 1785154732433604608 |
---|---|
author | Kishore, H. |
author_facet | Kishore, H. |
author_sort | Kishore, H. |
collection | PubMed |
description | Achondroplasia is an autosomal dominant congenital disorder of endochondral ossification, induced by abnormal activity of fibroblast growth factor receptor 3. Affected individuals have short stature and often present with neurological and skeletal complications. Most have normal intelligence. Ocular association with achondroplasia include simple microphthalmos, congenital-onset glaucoma with presumed Axenfeld–Rieger anomaly, telecanthus, exotropia, inferior oblique overaction, angle anomalies, Duane retraction syndrome, cone-rod dystrophy, fundus albipunctatus, chorioretinal coloboma, macular coloboma, keratoconus, and developmental cataract. A 6-year-old achondroplasia boy with developmental delay had a high axial length (high myopia) in both eyes. This child had a left eye subluxated cataractous lens, while the other eye showed mild lens changes. All achondroplasia patients should be routinely screened in detail for lens and other ophthalmological anomalies so that they can undergo timely intervention and management. |
format | Online Article Text |
id | pubmed-10697276 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
spelling | pubmed-106972762023-12-06 Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child Kishore, H. Oman J Ophthalmol Case Report Achondroplasia is an autosomal dominant congenital disorder of endochondral ossification, induced by abnormal activity of fibroblast growth factor receptor 3. Affected individuals have short stature and often present with neurological and skeletal complications. Most have normal intelligence. Ocular association with achondroplasia include simple microphthalmos, congenital-onset glaucoma with presumed Axenfeld–Rieger anomaly, telecanthus, exotropia, inferior oblique overaction, angle anomalies, Duane retraction syndrome, cone-rod dystrophy, fundus albipunctatus, chorioretinal coloboma, macular coloboma, keratoconus, and developmental cataract. A 6-year-old achondroplasia boy with developmental delay had a high axial length (high myopia) in both eyes. This child had a left eye subluxated cataractous lens, while the other eye showed mild lens changes. All achondroplasia patients should be routinely screened in detail for lens and other ophthalmological anomalies so that they can undergo timely intervention and management. Wolters Kluwer - Medknow 2023-10-18 /pmc/articles/PMC10697276/ http://dx.doi.org/10.4103/ojo.ojo_42_23 Text en Copyright: © 2023 Oman Ophthalmic Society https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Case Report Kishore, H. Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child |
title | Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child |
title_full | Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child |
title_fullStr | Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child |
title_full_unstemmed | Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child |
title_short | Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child |
title_sort | subluxated cataractous lens and high myopia: an uncommon association in an achondroplasia child |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10697276/ http://dx.doi.org/10.4103/ojo.ojo_42_23 |
work_keys_str_mv | AT kishoreh subluxatedcataractouslensandhighmyopiaanuncommonassociationinanachondroplasiachild |