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Open AccessArticle

Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy

1
Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia
2
Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, 75015 Paris, France
3
Unité Mixte de Recherche en Santé (UMRS) 1120, Institut National de la Santé et de la Recherche Médicale (INSERM), 75015 Paris, France
4
Complexité du Vivant, Sorbonne Universités, Université Pierre et Marie Curie, Université Paris 06, 75005 Paris, France
5
Institut de l’Audition, 75012 Paris, France
6
Syndrome de Usher et Autres Atteintes Rétino-Cochléaires, Institut de la Vision, 75012 Paris, France
7
Collège de France, 75005 Paris, France
8
Department of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia
9
Department of Otorhinolaryngology and Cervicofacial Surgery, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia
10
Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia
*
Author to whom correspondence should be addressed.
Genes 2019, 10(12), 956; https://doi.org/10.3390/genes10120956
Received: 30 October 2019 / Revised: 17 November 2019 / Accepted: 18 November 2019 / Published: 21 November 2019
(This article belongs to the Special Issue Recent Advances in Inherited Eye Disease)
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.
Keywords: USH2A; usher syndrome; retinitis pigmentosa; fundus autofluorescence; double hyperautofluorescent rings; electrophysiology; cone-rod dystrophy USH2A; usher syndrome; retinitis pigmentosa; fundus autofluorescence; double hyperautofluorescent rings; electrophysiology; cone-rod dystrophy
MDPI and ACS Style

Fakin, A.; Šuštar, M.; Brecelj, J.; Bonnet, C.; Petit, C.; Zupan, A.; Glavač, D.; Jarc-Vidmar, M.; Battelino, S.; Hawlina, M. Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy. Genes 2019, 10, 956.

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