Stingl Katarina, Kurtenbach Anne, Hahn Gesa, Kernstock Christoph, Hipp Stephanie, Zobor Ditta, Kohl Susanne, Bonnet Crystel, Mohand-Saïd Saddek, Audo Isabelle, Fakin Ana, Hawlina Marko, Testa Francesco, Simonelli Francesca, Petit Christine, Sahel Jose-Alain, Zrenner Eberhart
University Eye Hospital, Center for Ophthalmology, Elfriede-Aulhorn-Str. 7, 72076, Tuebingen, Germany.
Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Elfriede-Aulhorn-Str. 7, 72076, Tuebingen, Germany.
Doc Ophthalmol. 2019 Oct;139(2):151-160. doi: 10.1007/s10633-019-09704-8. Epub 2019 Jul 2.
Usher syndrome (USH) is a multisensory deficiency involving vision, hearing and the vestibular system. The purpose of this study is to report on the functional data (i.e. electroretinography, visual fields, visual acuity) of patients with retinitis pigmentosa (RP) due to Usher syndrome that were collected in a multicentre European study (TREATRUSH).
A total of 268 genetically confirmed USH patients underwent electrophysiological examinations in the context of multimodal ophthalmological examination in the study (75 USH1, 189 USH2 and four USH3). Full-field electroretinography (ERG) was performed according to ISCEV standards, visual field determination was carried out with either the Octopus or Goldmann perimeters and visual acuity was examined with either ETDRS or Snellen charts. The data were compared between USH subtypes (USH1/USH2/USH3) and correlated with age.
Visual acuity decreases significantly with age for both USH1 and USH2 (p < 0.001), without a difference between the two cohorts. When corrected for age, the preserved kinetic visual field was significantly larger in USH2 than in USH1 (p = 0.04). Furthermore, the preserved kinetic visual field area showed a significant decrease with age (based on an exponential fit) in both USH1 and USH2 (p < 0.001). In USH1 patients, however, the visual field was already vastly reduced at an early age. The ERG results were abnormal in all patients. Detectable data for scotopic ERG were obtained from nine patients, and data of photopic ERG were obtained from 24 patients, without a difference between USH1 and USH2 subtypes.
There are differences in the phenotypes of RP in USH subtypes, most visible in the progression of visual fields between USH1 and USH2. The perimetric reduction occurs earlier in USH1 than in USH2. In both subtypes, visual acuity decreases significantly with age and the ERG is not detectable already at early ages.
Usher综合征（USH）是一种涉及视觉、听觉和前庭系统的多感官缺陷。本研究的目的是报告在一项欧洲多中心研究（TREATRUSH）中收集的因Usher综合征导致的视网膜色素变性（RP）患者的功能数据（即视网膜电图、视野、视力）。
共有268例经基因确诊的USH患者在该研究的多模式眼科检查中接受了电生理检查（75例USH1型、189例USH2型和4例USH3型）。全视野视网膜电图（ERG）按照国际临床视觉电生理学会（ISCEV）标准进行，视野测定使用Octopus或Goldmann视野计，视力检查使用ETDRS或Snellen视力表。对USH各亚型（USH1/USH2/USH3）的数据进行比较，并与年龄进行相关性分析。
USH1型和USH2型患者的视力均随年龄显著下降（p < 0.001），两组之间无差异。校正年龄后，USH2型患者保留的动态视野明显大于USH1型患者（p = 0.04）。此外，USH1型和USH2型患者保留的动态视野面积均随年龄显著下降（基于指数拟合，p < 0.001）。然而，USH1型患者在早年视野就已大幅缩小。所有患者的ERG结果均异常。9例患者获得了暗视ERG的可检测数据，24例患者获得了明视ERG的数据，USH1型和USH2型亚型之间无差异。
USH各亚型中RP的表型存在差异，最明显的是USH1型和USH2型之间视野的进展情况。USH1型患者视野缩小比USH2型患者更早。在两种亚型中，视力均随年龄显著下降，且在早年ERG就已无法检测到。
