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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...

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Autores principales: Al-Najmi, Yahya, Abdalla Elsayed, Maram E. A., Alsaggaf, Khalid, Alghamdi, Albatool, Albeedh, Mohammed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2023
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.
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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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