These genes are inherited in an autosomal recessive manner and encode for peptides that form a complex in sensory hair cilia of the inner ear and in photoreceptors of the retina. Ĭurrently, there are a number of genes with causative roles in Usher syndrome. Finally, Type 3 is the least common presentation and involves variable onset of both hearing and vision difficulties.

Type 2 involves congenital hearing loss that is less severe than type 1, with the onset of retinal disease occurring in the first or second decade of life. This is the most severe form of disease and is often accompanied by vestibular dysfunction. Type 1 includes individuals with profound deafness at birth with the onset of visual disturbances occurring prior to puberty. There exist three distinct types of Usher syndrome that differ based on the onset and severity of symptoms.

Moreover, Usher syndrome is the most common cause of combined deafness and blindness, accounting for nearly 50% of all cases. While reports of disease prevalence vary, the condition has been estimated to occur in three in 100, 000 individuals. Usher syndrome represents a genetically diverse condition that involves both early-onset sensorineural hearing loss and retinal pathology. 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. 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. A thorough work-up that included blood tests and imaging was negative for an alternative cause of her uveitis. 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. Visual field testing, audiology and electroretinography findings supported the diagnosis of Usher syndrome. Aside from a mild loss in visual acuity, our patient was otherwise asymptomatic. Case presentationĪ 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. 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. 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. As a result, this syndrome can have a significant impact on a patient’s quality of life. 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. Usher syndrome is a genetically heterogeneous condition and represents the most common cause of inherited combined vision and hearing loss.

Who discovered usher syndrome