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.
2019
2021-11-11 11:41:23
1033
USH2A-retinopathy, double hyperautofluorescent rings, electrophysiology, USH2A, usher syndrome, retinitis pigmentosa, fundus autofluorescence, cone-rod dystrophy
USH2A-retinopatija, dvojni hipevtrofluorescenčni obroči, elektrofiziologija
dk_c
Ana
Fakin
70
Maja
Šuštar
70
Jelka
Brecelj
70
Crystel
Bonnet
70
Christine
Petit
70
Andrej
Zupan
70
Damjan
Glavač
70
Martina
Jarc-Vidmar
70
Saba
Battelino
70
Marko
Hawlina
70
UDK
4
617.7
ISSN pri članku
9
2073-4425
DOI
15
10.3390/genes10120956
COBISS_ID
3
34598361
RAZ_Fakin_Ana_2019.pdf
5440931
Predstavitvena datoteka
2021-11-11 11:43:57
0
Izvorni URL
2021-11-11 11:41:27