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S. Walia, G. A. Fishman, M. Hajali; Prevalence of Cystic Macular Lesions in Patients with Type II Usher Syndrome. Invest. Ophthalmol. Vis. Sci. 2008;49(13):2125. doi: https://doi.org/.
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To determine the prevalence of cystic macular lesions in Usher II patients.
All Usher II patients seen by one of the investigators (GAF) at the University of Illinois at Chicago from 2002 to the present were included in the study. For each patient, a complete eye examination was obtained including best - corrected visual acuity using a Snellen chart, slit - lamp biomicroscopy, intraocular pressure testing with a Goldmann applanation tonometer and dilated fundus examination. In some patients (n = 22) a Stratus time domain optical coherence tomography (OCT) unit was used while in others (n = 14) we used an Optovue Fourier domain OCT unit. For patients who could either not be contacted or were unwilling to return for OCT testing, previous records were utilized including fundus fluorescein angiograms (FFA), fundus photographs and clinical notes from prior visits.
Our cohort consisted of 76 patients from 71 families, with a mean age of 38 years. A cystic - appearing macular change was observed in at least one eye in 19 out of the 76 patients (25%), 13 on the basis of OCT, 5 using FFA (2 solely with the use of FFA and 3 based on clinical notes and FFA findings) and 1 based solely on clinical notes. OCT was performed on 36 patients while an additional 8 patients had FFA, for a total of 44 patients. Five of the eight patients who had FFA testing also had an OCT exam. We observed that 40.9% of these 44 patients (n = 18) showed the presence of cystic lesions in at least one eye. Of these 18 patients with CME, determined by OCT, FFA or both, five (27.8%) showed either a funduscopically normal - appearing macula (n = 4) or an atrophic appearing macular change (n = 1).
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