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

Orphanet Journal of Rare Diseases

Jose Alain Sahel¹  Saddek Mohand-Said²  Tunde Peto³  Ieva Sliesoraityte² 

[1] INSERM, CNRS, Institut de la Vision, Sorbonne Universités, UPMC Univ Paris 06, 17 rue Moreau, Paris, 75012, France;Centre Hospitalier National d’Ophtalmologie des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS CIC 1243, 28 rue de Charenton, Paris, 75012, France;NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, 162 City Road, London, ECV1 2PD, UK

关键词: Phenotype;    Genotype;    Usher syndrome;    Optical coherence tomography;    Grading system;    Cystic macular lesions;   

Others  :  1235017
DOI  :  10.1186/s13023-015-0372-0

 received in 2015-06-26, accepted in 2015-11-25,  发布年份 2015

【 摘 要 】

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 USH2A cases. 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.

【 授权许可】

   
2015 Sliesoraityte et al.

【 图 表 】

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