2 型乌谢尔综合征--感音神经性听力损失的病因。

IF 0.6 Q4 SURGERY
B L Yatish Kumar, Manjoo S Reddy, N Vijayendra Simha, K Avinash
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引用次数: 0

摘要

乌谢尔综合征是一种遗传性疾病,涉及感音神经性听力损失和视网膜色素变性(RP)。虽然被认为是一种罕见疾病,但它却是导致人类失聪-失明的最常见原因。该病为常染色体隐性遗传。临床上将其分为三个重要的类型:I 型、2 型和 3 型。我们对一家医学院附属医院的三名患者进行了一项回顾性研究,这些患者在五年内出现非进行性听力损失和进行性视力减退。对患者进行了病史、完整的耳鼻喉科、听力和眼科评估。3 名患者(2 男 1 女)平均年龄为 24 岁,患有双侧中重度感音神经性听力损失和双侧视网膜色素变性。所有患者均使用助听器进行康复治疗,并对眼科问题进行了药物治疗。乌谢尔综合征是一种罕见的自幼出现双侧听力损失的病症。通过听力和眼科检查及早发现这一病症,可以提高患者的生活质量,改善听力,延缓完全失明的进展。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Type 2 Usher Syndrome - A Cause for Sensorineural Hearing Loss.

Usher syndrome is a genetic condition involving Sensorineural hearing loss and Retinitis pigmentosa (RP). Although considered a rare disease, it is the most frequent cause of deaf- blindness in humans. It is inherited in an autosomal recessive pattern. It is divided clinically into three significant groups: Type I, Type 2 and Type 3. A retrospective study was carried out for three patients over a period of 5 years in a medical college hospital presenting with non-progressive hearing loss and progressive diminished vision. History, complete ENT, audiological and ophthalmological evaluation was performed. 3 patients (2 males, 1 Female) with a mean age 24 years had bilateral moderate to severe sensorineural hearing loss and bilateral retinitis pigmentosa. All patients were rehabilitated with hearing aids, and medical treatment was given for ophthalmic issues. Usher syndrome is the rare possibility of bilateral hearing loss since early childhood. Early detection of this condition with audiological and ophthalmic examination will improve the quality of life, improve hearing and delay the progression of complete blindness.

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来源期刊
CiteScore
0.80
自引率
0.00%
发文量
226
审稿时长
6-12 weeks
期刊介绍: Indian Journal of Otolaryngology and Head & Neck Surgery was founded as Indian Journal of Otolaryngology in 1949 as a scientific Journal published by the Association of Otolaryngologists of India and was later rechristened as IJOHNS to incorporate the changes and progress. IJOHNS, undoubtedly one of the oldest Journals in India, is the official publication of the Association of Otolaryngologists of India and is about to publish it is 67th Volume in 2015. The Journal published quarterly accepts articles in general Oto-Rhino-Laryngology and various subspecialities such as Otology, Rhinology, Laryngology and Phonosurgery, Neurotology, Head and Neck Surgery etc. The Journal acts as a window to showcase and project the clinical and research work done by Otolaryngologists community in India and around the world. It is a continued source of useful clinical information with peer review by eminent Otolaryngologists of repute in their respective fields. The Journal accepts articles pertaining to clinical reports, Clinical studies, Research articles in basic and applied Otolaryngology, short Communications, Clinical records reporting unusual presentations or lesions and new surgical techniques. The journal acts as a catalyst and mirrors the Indian Otolaryngologist’s active interests and pursuits. The Journal also invites articles from senior and experienced authors on interesting topics in Otolaryngology and allied sciences from all over the world. The print version is distributed free to about 4000 members of Association of Otolaryngologists of India and the e-Journal shortly going to make its appearance on the Springer Board can be accessed by all the members. Association of Otolaryngologists of India and M/s Springer India group have come together to co-publish IJOHNS from January 2007 and this bondage is going to provide an impetus to the Journal in terms of international presence and global exposure.
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