Double hyperautofluorescent rings in patients with USH2A-retinopathy

Fakin, Ana (avtor), Šuštar Habjan, Maja (avtor), Brecelj, Jelka (avtor), Bonnet, Crystel (avtor), Petit, Christine (avtor), Zupan, Andrej (avtor), Glavač, Damjan (avtor), Jarc-Vidmar, Martina (avtor), Battelino, Saba (avtor), Hawlina, Marko (avtor)

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.

• Jezik: Angleški jezik
• Ključne besede: USH2A-retinopathy, double hyperautofluorescent rings, electrophysiology, USH2A, usher syndrome, retinitis pigmentosa, fundus autofluorescence, cone-rod dystrophy
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.01 - Izvirni znanstveni članek
• Organizacija: MF - Medicinska fakulteta
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Leto izida: 2019
• Št. strani: 11 str.
• Številčenje: Vol. 10, iss. 12, art. 956
• PID: 20.500.12556/RUL-133108
• UDK: 617.7
• ISSN pri članku: 2073-4425
• DOI: 10.3390/genes10120956
• COBISS.SI-ID: 34598361
• Datum objave v RUL: 11.11.2021

Gradivo je del revije

• Naslov: Genes
• Skrajšan naslov: Genes
• Založnik: Multidisciplinary Digital Publishing Institute (MDPI)
• ISSN: 2073-4425
• COBISS.SI-ID: 523100185

Licence

• Licenca: CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by/4.0/deed.sl
• Opis: To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.
• Začetek licenciranja: 01.12.2019

Sekundarni jezik

• Jezik: Slovenski jezik
• Ključne besede: USH2A-retinopatija, dvojni hipevtrofluorescenčni obroči, elektrofiziologija

Projekti

• Financer: ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
• Številka projekta: P3-0333
• Naslov: Očesne bolezni odraslih in otrok

• Financer: EC - European Commission
• Program financ.: FP7
• Številka projekta: 242013
• Naslov: Fighting blindness of Usher syndrome: diagnosis, pathogenesis and retinal treatment (TreatRetUsher)
• Akronim: TREATRUSH