Bilateral uveitis and Usher syndrome: a case report

Abstract

IntroductionUsher 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 presentationA 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.ConclusionWe 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.

Retinitis pigmentosa and HLA-B27 associated uveitis

“…In general, the majority of reports about RP association with uveitis focused on FHU. These reports are not so large like mentioned above [3,8,16,20,25,26,27]. None of our patients had signs of FHU and all cases were bilateral.…”

Depletion of Retinal Dopaminergic Activity in a Mouse Model of Rod Dysfunction Exacerbates Experimental Autoimmune Uveoretinitis: A Role for the Gateway Reflex

“…It is initially manifested by symptoms of night blindness, followed by peripheral visual field constriction and by loss of central vision in the most advanced stages [ 10 ]. Several studies have also demonstrated that uveitis is not an uncommon condition in RP patients [ 11 , 12 , 13 , 14 ]. However, the underlying mechanism explaining why some patients with RP are prone to AU, and vice versa, is largely unknown and remains an important issue to be addressed.…”

Progression of retinal pigmentation mimicking unilateral retinitis pigmentosa after bilateral pars planitis: a case report

“…The patient was first diagnosed of pars planitis. Few publications of uveitis coexisting with RP have been reported, specially a form of non-granulomatous uveitis called Fuchs’ heterochromic iridocyclitis [ 11 – 14 ]. Dust-like particles in the vitreous are present in the great majority of young individuals with RP.…”