Indian Journal of Clinical and Experimental Ophthalmology
Official Publication of Innovative Education and Scientific Research Foundation
Official Publication of Innovative Education and Scientific Research Foundation
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...Case Report
Author Details :
Volume : 9, Issue : 1, Year : 2023
Article Page : 125-127
https://doi.org/10.18231/j.ijceo.2023.024
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
This is an Open Access (OA) 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.
