Purchase this article with an account.
Dorothée Dagostinoz, Ieva Sliesoraityte, Saddek Mohand-Said, Isabelle Audo, Jose Alain Sahel; Central retina morphology in patients with genetically confirmed Usher syndrome. Invest. Ophthalmol. Vis. Sci. 2014;55(13):1415.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
Precise description of central retinal microstructure could provide new insights in elaborating disease boundaries, progression profiles, and sensitive markers for gene therapy trials. We aim to describe central retinal morphology in patients with genetically confirmed Usher syndrome (USH).
Seventy-five Usher syndrome patients’ (mean 40±14years) molecularly confirmed, were enrolled in observational cross-sectional study, while data from 75 eyes were used for analysis. All patients underwent in-depth phenotypic examination, including visual acuity, color vision, visual field testing, full-field electroretinography (ERG) and multifocal electroretinography (mfERG). Spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF) were used to evaluate retinal morphological changes in these patients.
There were 20(27%) USH type 1, 52(69%) USH type 2 and 3(4%) USH type 3 patients. All patients were found to carry at least one mutation and 63 (84%) were found to carry two mutations in Usher genes. The median visual acuity for the cohort was 0.30 logarithm of the minimum angle of resolution (logMAR; range, -0.1-1.5). Three distinct morphological patterns were observed on FAF imaging: ring (44%), ring-patch (11%), patch (15%), and foveal atrophy (30%). The ring pattern inner band boarder was significantly associated with disrupted ellipsoid zone (r=0.99,p=0.001) and outer borders with disrupted external limiting membrane (=0.98,p=0.001), the patch pattern was significantly associated with pigment migration (r=0.78,p=0.01), while the foveal atrophy pattern with disruption of retinal pigment epithelium (r=0.88,p=0.01) in OCT macular scans. Increased thickness of the ONL and INL were observed in foveal region, which was related with cystic lesions in latent layers (r=0.63, p=0.05; 0.74, p=0.05). The first detectable abnormality was the declining thickness of the ONL in concentric manner from periphery to the centre, present in all USH cases and significantly correlated with age and disease duration (r=0.56, p=0.03).
Detailed description of central retinal morphology performed in a large cohort of Usher syndrome patients, while architecture of the central retina ranged from mild to severely abnormal pattern. The most vulnerable retinal architecture layers were estimated, which could be potentially used as possible outcomes to assess safety and efficacy in therapy trials.
This PDF is available to Subscribers Only