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Unilateral High Intraocular Pressure, Cataract, and Retinal Detachment in Waardenburg Syndrome
Waardenburg syndrome was first described in 1951 by Dutch ophthalmologist Petrus Johannes Waardenburg (1886-1979). It is an auditory-pigmentary syndrome that results from a lack of melanocytes in the hair, skin, eyes, or stria vascularis of the cochlea. It accounts for more than 2% of congenitally d...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10176194/ https://www.ncbi.nlm.nih.gov/pubmed/37187672 http://dx.doi.org/10.1159/000529278 |
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author | Al-Najmi, Yahya Abdalla Elsayed, Maram E. A. Alsaggaf, Khalid Alghamdi, Albatool Albeedh, Mohammed |
author_facet | Al-Najmi, Yahya Abdalla Elsayed, Maram E. A. Alsaggaf, Khalid Alghamdi, Albatool Albeedh, Mohammed |
author_sort | Al-Najmi, Yahya |
collection | PubMed |
description | Waardenburg syndrome was first described in 1951 by Dutch ophthalmologist Petrus Johannes Waardenburg (1886-1979). It is an auditory-pigmentary syndrome that results from a lack of melanocytes in the hair, skin, eyes, or stria vascularis of the cochlea. It accounts for more than 2% of congenitally deaf individuals [Indian J Otolaryngol Head Neck Surg. 2015 Sep;67(3):324–8]. Affected people usually have neurosensory hearing loss, forelock pigmentation loss, iris heterochromia, and medial canthus dystopia, and their first-degree relatives have the same features of this syndrome. The following is a report of an unusual and rare presentation of ocular findings in Waardenburg syndrome. A 25-year-old male presented for eye examination due to gradual loss of his left eye visual acuity over the last few years with characteristic features of Waardenburg syndrome along with high intraocular pressure (IOP), cataract, and retinal detachment (RD) in one eye. |
format | Online Article Text |
id | pubmed-10176194 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | S. Karger AG |
record_format | MEDLINE/PubMed |
spelling | pubmed-101761942023-05-13 Unilateral High Intraocular Pressure, Cataract, and Retinal Detachment in Waardenburg Syndrome Al-Najmi, Yahya Abdalla Elsayed, Maram E. A. Alsaggaf, Khalid Alghamdi, Albatool Albeedh, Mohammed Case Rep Ophthalmol Case Report Waardenburg syndrome was first described in 1951 by Dutch ophthalmologist Petrus Johannes Waardenburg (1886-1979). It is an auditory-pigmentary syndrome that results from a lack of melanocytes in the hair, skin, eyes, or stria vascularis of the cochlea. It accounts for more than 2% of congenitally deaf individuals [Indian J Otolaryngol Head Neck Surg. 2015 Sep;67(3):324–8]. Affected people usually have neurosensory hearing loss, forelock pigmentation loss, iris heterochromia, and medial canthus dystopia, and their first-degree relatives have the same features of this syndrome. The following is a report of an unusual and rare presentation of ocular findings in Waardenburg syndrome. A 25-year-old male presented for eye examination due to gradual loss of his left eye visual acuity over the last few years with characteristic features of Waardenburg syndrome along with high intraocular pressure (IOP), cataract, and retinal detachment (RD) in one eye. S. Karger AG 2023-05-12 /pmc/articles/PMC10176194/ /pubmed/37187672 http://dx.doi.org/10.1159/000529278 Text en © 2023 The Author(s). Published by S. Karger AG, Basel https://creativecommons.org/licenses/by-nc/4.0/This article is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission. |
spellingShingle | Case Report Al-Najmi, Yahya Abdalla Elsayed, Maram E. A. Alsaggaf, Khalid Alghamdi, Albatool Albeedh, Mohammed Unilateral High Intraocular Pressure, Cataract, and Retinal Detachment in Waardenburg Syndrome |
title | Unilateral High Intraocular Pressure, Cataract, and Retinal Detachment in Waardenburg Syndrome |
title_full | Unilateral High Intraocular Pressure, Cataract, and Retinal Detachment in Waardenburg Syndrome |
title_fullStr | Unilateral High Intraocular Pressure, Cataract, and Retinal Detachment in Waardenburg Syndrome |
title_full_unstemmed | Unilateral High Intraocular Pressure, Cataract, and Retinal Detachment in Waardenburg Syndrome |
title_short | Unilateral High Intraocular Pressure, Cataract, and Retinal Detachment in Waardenburg Syndrome |
title_sort | unilateral high intraocular pressure, cataract, and retinal detachment in waardenburg syndrome |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10176194/ https://www.ncbi.nlm.nih.gov/pubmed/37187672 http://dx.doi.org/10.1159/000529278 |
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