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Ophthalmic Genetics Volume 39, 2018 - Issue 1
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Research Reports

Prevalence of macular abnormalities assessed by optical coherence tomography in patients with Usher syndrome

Francesco TestaEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, ItalyORCID Iconhttp://orcid.org/0000-0002-1482-1577View further author information
ORCID Icon,
Paolo MelilloEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, ItalyORCID Iconhttp://orcid.org/0000-0002-6519-0293View further author information
ORCID Icon,
Settimio RossiEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, ItalyView further author information
,
Vincenzo MarcelliAudiology Unit, Department of Neuroscience, Reproductive and Odontostomatologic Science, University of Naples Federico II, Naples, ItalyView further author information
,
Antonella de BenedictisEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, ItalyView further author information
,
Raffaella ColucciEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, ItalyView further author information
,
Beatrice GalloEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, ItalyView further author information
,
Raffaella Brunetti-PierriEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, ItalyView further author information
,
Simone DonatiDepartment of Surgical and Morphological Sciences, University of Insunbria, Varese, ItalyView further author information
,
Claudio AzzoliniDepartment of Surgical and Morphological Sciences, University of Insunbria, Varese, ItalyView further author information
,
Elio MarcianoAudiology Unit, Department of Neuroscience, Reproductive and Odontostomatologic Science, University of Naples Federico II, Naples, ItalyView further author information
&
Francesca SimonelliEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, ItalyCorrespondence[email protected]
ORCID Iconhttp://orcid.org/0000-0001-8520-6769View further author information
ORCID Icon show all
Pages 17-21 | Received 04 Aug 2016, Accepted 07 May 2017, Published online: 13 Jul 2017
 
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ABSTRACT

Background: To investigate the prevalence of macular abnormalities in patients affected by Usher syndrome (USH), by comparing the clinical findings between two types (i.e., USH1 and USH2).

Material and methods: A retrospective study was performed by reviewing optical coherence tomography (OCT) in 134 USH patients to determine the presence of macular abnormalities, including cystoid macular edema (CME), epiretinal membrane (ERM), vitreo-macular traction syndrome (VMT), and macular hole (MH).

Results: Macular abnormalities were observed in 126/268 (47.0%) examined eyes. The most frequent abnormality was ERM observed in 51 eyes (19%), followed by CME observed in 42 eyes (15.7%). Moreover, CME was significantly (p < 0.05) associated with younger age (CME: 30.1 ± 11.1 years; without CME: 36.9 ± 14.9 years), whereas VMT and full thickness MH were associated with older age (p < 0.05). Moreover, a significantly (p < 0.05) decreased best-corrected visual acuity was associated with MH compared to eyes without MH. Finally, CME was more frequent in USH1 compared to USH2.

Conclusion: Our study, for the first time in the literature, showed the distribution of all macular abnormalities assessed by SD-OCT in a large USH cohort, comparing USH1 and USH2 patients. We observed that ocular abnormalities are highly prevalent in USH patients compared to general population, with ERM and CME being the most common alterations. Based on these findings, OCT screening in USH patients is recommended for early detection of macular changes and early treatment.

Acknowledgments

The authors thank Dr. Carmela Acerra for text editing.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Funding

This study was supported by Retina Campania and Associazione Italiana per la Retinite Pigmentosa e l’Ipovisione (AIRPI).

Additional information

Funding

This study was supported by Retina Campania and Associazione Italiana per la Retinite Pigmentosa e l’Ipovisione (AIRPI).

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