20.500.12556/RUL-133108 Double hyperautofluorescent rings in patients with USH2A-retinopathy USH2A mutation is the most common cause of retinitis pigmentosa, with or without hearing impairment. Patients most commonly exhibit hyperautofluorescent ring on fundus autofluorescence imaging (FAF) and rod-cone dystrophy on electrophysiology. A detailed study of three USH2A patients with a rare pattern of double hyperautofluorescent rings was performed. Twenty-four patients with typical single hyperautofluorescent rings were used for comparison of the ages of onset, visual fields, optical coherence tomography, electrophysiology, and audiograms. Double rings delineated the area of pericentral retinal degeneration in all cases. Two patients exhibited rod-cone dystrophy, whereas the third had a cone-rod dystrophy type of dysfunction on electrophysiology. There was minimal progression on follow-up in all three. Patients with double rings had significantly better visual acuity, cone function, and auditory performance than the single ring group. Double rings were associated with combinations of null and missense mutations, none of the latter found in the single ring patients. According to these findings, the double hyperautofluorescent rings indicate a mild subtype of USH2A disease, characterized by pericentral retinal degeneration, mild to moderate hearing loss, and either a rod-cone or cone-rod pattern on electrophysiology, the latter expanding the known clinical spectrum of USH2A-retinopathy. USH2A-retinopathy double hyperautofluorescent rings electrophysiology USH2A usher syndrome retinitis pigmentosa fundus autofluorescence cone-rod dystrophy USH2A-retinopatija dvojni hipevtrofluorescenčni obroči elektrofiziologija true false true Angleški jezik Slovenski jezik Članek v reviji 2021-11-11 11:41:23 2021-11-11 11:41:25 2022-09-12 04:14:54 0000-00-00 00:00:00 2019 0 0 11 str. iss. 12, art. 956 Vol. 10 2019 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 617.7 2073-4425 10.3390/genes10120956 34598361 RAZ_Fakin_Ana_2019.pdf RAZ_Fakin_Ana_2019.pdf 1 04F34171D4F5143C97AD3E10A85B3631 a395a31e249d1711f2cc175ca23c62d416fadb98e9f6333a728e11cbc4b72a2a 35f81eb7-42dc-11ec-abdb-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=150910 https://www.mdpi.com/2073-4425/10/12/956 1 dc8ee8de-42db-11ec-abdb-00155dcfd717 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=150909 Medicinska fakulteta 0 0 0