Novel grading system for quantification of cystic macular lesions in Usher syndrome

Ieva Sliesoraityte¹^*, Tunde Peto², Saddek Mohand-Said¹ and Jose Alain Sahel¹³

*Corresponding author: Ieva Sliesoraityte isliesoraityte@gmail.com

¹Centre Hospitalier National d’Ophtalmologie des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS CIC 1243, 28 rue de Charenton, Paris, 75012, France

²NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, 162 City Road, London, ECV1 2PD, UK

³INSERM, CNRS, Institut de la Vision, Sorbonne Universités, UPMC Univ Paris 06, 17 rue Moreau, Paris, 75012, France

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Orphanet Journal of Rare Diseases 2015, 10:157 doi:10.1186/s13023-015-0372-0

The electronic version of this article is the complete one and can be found online at:http://www.ojrd.com/content/10/1/157

Received:	26 June 2015
Accepted:	25 November 2015
Published:	10 December 2015

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

Abstract

Background

To evaluate novel grading system used to quantify optical coherence tomography (OCT) scans for cystic macular lesions (CML) in Usher syndrome (USH) patients, focusing on CML associated alterations in MOY7A and USH2A mutations.

Methods

Two readers evaluated 76 patients’ (mean age 42 ± 14 years) data prospectively uploaded on Eurush database. OCT was used to obtain high quality cross-sectional images through the fovea. The CML was graded as none, mild, moderate or severe, depending on the following features set: subretinal fluid without clearly detectable CML boundaries; central macular thickness; largest diameter of CML; calculated mean of all detectable CML; total number of detectable CML; retinal layers affected by CML. Intra-and inter-grader reproducibility was evaluated.

Results

CML were observed in 37 % of USH eyes, while 45 % were observed in MYO7A and 29 % in USH2Acases. Of those with CML: 52 % had mild, 22 % had moderate and 26 % had severe changes, respectively. CML were found in following retinal layers: 50 % inner nuclear layer, 44 % outer nuclear layer, 6 % retinal ganglion cell layer. For the inter-grader repeatability analysis, agreements rates for CML were 97 % and kappa statistics was 0.91 (95 % CI 0.83-0.99). For the intra-grader analysis, agreement rates for CML were 98 %, while kappa statistics was 0.96 (95 % CI 0.92-0.99).

Conclusions

The novel grading system is a reproducible tool for grading OCT images in USH complicated by CML, and potentially could be used for objective tracking of macular pathology in clinical therapy trials.