Bilateral uveitis and Usher syndrome: a case report

Journal of Medical Case Reports

Ian M MacDonald¹  Matthew D Benson¹ 

[1] Department of Ophthalmology and Visual Sciences, University of Alberta, Room 2319, 10240 Kingsway Avenue, Edmonton T5H 3V9, AB, Canada

关键词: Usher syndrome;    Retinitis pigmentosa;    Keratic precipitates;    Granulomatous uveitis;   

Others  :  1145657
DOI  :  10.1186/s13256-015-0534-7

 received in 2014-09-03, accepted in 2015-01-28,  发布年份 2015

【 摘 要 】

Introduction

Usher syndrome is a genetically heterogeneous condition and represents the most common cause of inherited combined vision and hearing loss. Deficits manifest as sensorineural hearing loss that typically develops at a young age and retinitis pigmentosa that can lead to peripheral vision loss and night blindness. As a result, this syndrome can have a significant impact on a patient’s quality of life.

Previous studies have described an association between Usher syndrome and Fuchs’ heterochromic iridocyclitis, a form of non-granulomatous uveitis that generally presents in a unilateral manner. We present a rare finding of bilateral uveitis and, to the best of our knowledge, the first report of granulomatous uveitis as a feature in a patient with Usher syndrome.

Case presentation

A 45-year-old Caucasian woman with a known history of retinitis pigmentosa presented to our clinic with suspected Usher syndrome, given her report of long-standing hearing loss. Aside from a mild loss in visual acuity, our patient was otherwise asymptomatic. Visual field testing, audiology and electroretinography findings supported the diagnosis of Usher syndrome.With slit lamp examination she was found to have bilateral keratic precipitates, with large, greasy-white, mutton-fat keratic precipitates on the endothelial surface of her left eye. A thorough work-up that included blood tests and imaging was negative for an alternative cause of her uveitis.

Conclusion

We present a rare finding of bilateral uveitis and what we believe to be the first reported instance of mutton-fat keratic precipitates and granulomatous uveitis as a feature in a patient with Usher syndrome. By identifying atypical presentations of the disease, we hope to contribute to the range of ophthalmic conditions that may be seen in association with Usher syndrome.

【 授权许可】

   
2015 Benson and MacDonald; licensee BioMed Central.

【 图 表 】

Figure 1.

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