Indian Journal of Clinical and Experimental Ophthalmology

Print ISSN: 2395-1443

Online ISSN: 2395-1451

CODEN : IJCEKF

Indian Journal of Clinical and Experimental Ophthalmology (IJCEO) is open access, a peer-reviewed medical journal, published quarterly, online, and in print, by the Innovative Education and Scientific Research Foundation (IESRF) since 2015. To fulfil our aim of rapid dissemination of knowledge, we publish articles ‘Ahead of Print’ on acceptance. In addition, the journal allows free access (Open Access) to its content, which is likely to attract more readers and citations of articles published in IJCEO. Manuscripts must be prepared in more...

Article type

Case Report


Article page

125-127


Authors Details

Gagandeep Kaur, Anureet Kaur, Mandeep Kaur*, Haramritpal Singh, Charu Chadha


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A rare genetic mutation case report: Waardenburg syndrome type I


Case Report

Author Details : Gagandeep Kaur, Anureet Kaur, Mandeep Kaur*, Haramritpal Singh, Charu Chadha

Volume : 9, Issue : 1, Year : 2023

Article Page : 125-127

https://doi.org/10.18231/j.ijceo.2023.024



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Abstract

Waardenburg syndrome is a rare genetically inherited disorder well-known for its classical auditory-pigmentary abnormalities. Various other minor systemic defects can also occur in structures developing from neural crest cells during embryogenesis. We are reporting a case of a 7-year old girl who presented to our OPD with bilateral sensorineural hearing loss and heterochromia iridis.
 

Keywords: Waardenburg syndrome, Auditory- pigmentary abnormalities, Sensorineural hearing loss, Heterochromia iridis.


How to cite : Kaur G, Kaur A, Kaur M, Singh H, Chadha C, A rare genetic mutation case report: Waardenburg syndrome type I. Indian J Clin Exp Ophthalmol 2023;9(1):125-127

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