Double hyperautofluorescent rings in patients with USH2A-retinopathy

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

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.

• Language: English
• Keywords: USH2A-retinopathy, double hyperautofluorescent rings, electrophysiology, USH2A, usher syndrome, retinitis pigmentosa, fundus autofluorescence, cone-rod dystrophy
• Work type: Article
• Typology: 1.01 - Original Scientific Article
• Organization: MF - Faculty of Medicine
• Publication status: Published
• Publication version: Version of Record
• Year: 2019
• Number of pages: 11 str.
• Numbering: Vol. 10, iss. 12, art. 956
• PID: 20.500.12556/RUL-133108
• UDC: 617.7
• ISSN on article: 2073-4425
• DOI: 10.3390/genes10120956
• COBISS.SI-ID: 34598361
• Publication date in RUL: 11.11.2021

Record is a part of a journal

• Title: Genes
• Shortened title: Genes
• Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
• ISSN: 2073-4425
• COBISS.SI-ID: 523100185

Licences

• License: CC BY 4.0, Creative Commons Attribution 4.0 International
• Link: http://creativecommons.org/licenses/by/4.0/
• Description: This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.
• Licensing start date: 01.12.2019

Secondary language

• Language: Slovenian
• Keywords: USH2A-retinopatija, dvojni hipevtrofluorescenčni obroči, elektrofiziologija

Projects

• Funder: ARRS - Slovenian Research Agency
• Project number: P3-0333
• Name: Očesne bolezni odraslih in otrok

• Funder: EC - European Commission
• Funding programme: FP7
• Project number: 242013
• Name: Fighting blindness of Usher syndrome: diagnosis, pathogenesis and retinal treatment (TreatRetUsher)
• Acronym: TREATRUSH