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Ieva Sliesoraityte, Saddek Mohand-Said, Larissa Moutsimilli, Tunde Peto, Jose Sahel; The prevalence of cystic macula lesions in genetically confirmed Usher syndrome patients. Invest. Ophthalmol. Vis. Sci. 2016;57(12):153.
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© ARVO (1962-2015); The Authors (2016-present)
Usher syndrome (USH) is a rare autosomal recessive group of disorders characterized by retinitis pigmentosa (RP), sensorineural hearing loss and vestibular dysfunction. We aimed to investigate the prevalence of cystic macula lesions (CML) in genetically confirmed USH patients.
76 patients (mean 42±14 years) were prospectively observed at the Clinical Investigation Center, CHNO des Quinze-Vingts, Paris, France. All patients were found to carry at least one mutation, while 89% of them carried two mutations in USH-associated genes. High quality optical coherence tomography (OCT) scans (Spectralis HRA + OCT, Heidelberg Engineering, Dossenheim, Germany) were utilized to grade CML using a standard grading system. Once the grading database was verified and closed, the grading and clinical data were merged.
In our patients’ cohort the prevalence of CML in USH associated genes was the following: 5/11(45%) MYO7A, 1/3(33%) CDH23, 0/1(0%) PCDH15, 0/1(0%) USH1C, 11/38(29%) USH2A, 3/6(50%) GPR98, 3/3(100%) CLRN1, and 0/1(0%) had mutations in GPR98 and MYO7A genes. The inner nuclear layer (INL) was affected in 8/16(50%), outer nuclear layer (ONL) in 7/16(44%), and the retinal ganglion cell layer (RGC) in 1/16(6%) of the cases. In USH2A cases, CML affinity was observed to INL layer, while in CLRN1 and GPR98 to ONL layer, respectively.
CML is a common complication in patients with USH. CML tend to have a high prevalence in INL and ONL retinal layers. CML can potentially impact on future therapeutic trials where visual acuity is used as an outcome measure.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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