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Double hyperautofluorescent rings in patients with USH2A-retinopathy
ID Fakin, Ana (Avtor), ID Šuštar, Maja (Avtor), ID Brecelj, Jelka (Avtor), ID Bonnet, Crystel (Avtor), ID Petit, Christine (Avtor), ID Zupan, Andrej (Avtor), ID Glavač, Damjan (Avtor), ID Jarc-Vidmar, Martina (Avtor), ID Battelino, Saba (Avtor), ID Hawlina, Marko (Avtor)

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URLURL - Izvorni URL, za dostop obiščite https://www.mdpi.com/2073-4425/10/12/956 Povezava se odpre v novem oknu

Izvleček
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 (dk_c)
Tipologija:1.01 - Izvirni znanstveni članek
Organizacija:MF - Medicinska fakulteta
Leto izida:2019
Status objave pri reviji:Objavljeno
Verzija članka:Založnikova različica članka
Št. strani:11 str.
Številčenje:Vol. 10, iss. 12, art. 956
UDK:617.7
ISSN pri članku:2073-4425
DOI:10.3390/genes10120956 Povezava se odpre v novem oknu
COBISS.SI-ID:34598361 Povezava se odpre v novem oknu
Datum objave v RUL:11.11.2021
Število ogledov:295
Število prenosov:51
Metapodatki:XML RDF-CHPDL DC-XML DC-RDF
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Gradivo je del revije

Naslov:Genes
Skrajšan naslov:Genes
Založnik:MDPI
ISSN:2073-4425
COBISS.SI-ID:523100185 Povezava se odpre v novem oknu

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

Gradivo je financirano iz projekta

Financer:ARRS - Agencija za raziskovalno dejavnost Republike Slovenije (ARRS)
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

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