USHER Syndrome: retinal degeneration, hearing loss and associated abnormalities

Abstract

Usher syndrome is an incurable autosomal recessive genetic disease. Usher syndrome is the most frequent syndrome form in which typical retinitis pigmentosa is associated with neurosensory deafness. Aim: Prospective and retrospective examination of medical records and patients with retinitis pigmentosa. Material and method: Typical familiar presentation of the disease (9patients) and sporadic cases (15 patients) were examined from January 2006 to December 2016. Most of the cases are still following in the Clinic for eye disease in Skopje. The visual acuity, slip lamp and fundus examination, visual field, FFA, red cam investigation and OCT of the posterior segment were done in some of the patients. In 24 patients, condition of the hearing was studied with vestibular analyzation and genetic examination of the same patients were done. Results: Clinical symptoms, FFA angiogram, OCT slides and visual fields results are discussed. The arteriolar attenuation, retinal bone-spicule pigmentation and waxy disc pallor were present in all patients. Visual prognosis depends from involvement of the macula-maculopathy and opacification of the lens. Neural sensorial hearing loss was noticed in 60% of the patients. 45% of patients suffering from RP have socially inadequate hearing. RP patients with hearing loss have alteration of vestibular function of peripheral type in 80% and mixed type in 20%. Mutations of the USH genes were found. Conclusion: Dissolving the ocular complication and continuous following of the patients with Usher syndrome is important for saving the vision acuity and hearing function. Importance of examination of visual functions in cases of neurosensory hearing loss of unknown genesis and vice versa is underlined.