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Raffaella Colucci, Rosa Boccia, Valentina Di Iorio, Ada Orrico, Paolo Melillo, Settimio Rossi, Michele Della Corte, Francesco Testa, Francesca Simonelli; Clinical presentation and disease course in Choroideremia patients. Invest. Ophthalmol. Vis. Sci. 2016;57(12):159.
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© 2017 Association for Research in Vision and Ophthalmology.
To report the disease progression in patients with clinical and genetic diagnosis of Choroideremia (CHM) over a long-term follow-up.
A retrospective longitudinal study was performed in 30 subjects. Medical charts of the baseline and follow-up visits were reviewed to extract the following ocular findings: Best-Corrected Visual Acuity (BCVA), fundus examination, Goldmann Visual Field (GVF), Optical Coherence Tomography (OCT), Microperimetry (MP1) and standard full-field Electroretinogram (ERG). Baseline data are presented as mean ± standard error of the mean. For the statistical regression analysis, BCVA was converted in LogMAR. Repeated measure regression models based on GEE were adopted to analyze the change of the clinical variables over follow-up. A p-value less than 5% was considered statistically significant. The study adhered to the tenets of the Declaration of Helsinki and received approval by the Local Ethics Committee. Moreover, each patient gave written informed consent.
The mean age at baseline was 34.7 ± 3.1 years (range: 7-65 years). The mean visual acuity (at first visit) in the cohort was 0.6 ± 0.2 LogMar in both eyes. Moreover, all the patients showed a constricted GVF (mean: 4758 ± 1603°2 in right eyes; 5105 ± 1615°2 in left eyes). Dark-adapted ERG responses were below the noise level in all the patients, while light-adapted ERG responses were detectable in 8 patients, even if with a marked reduction of amplitude.The patients were followed up for a mean time period of 6.7 years. The analysis showed a significant reduction of BCVA with a mean rate of 0.038 LogMar (about 2 ETDRS letters) per year (p<0.001), associated with a decrease of GVF area with a mean exponential rate of 6.4% per year (p<0.001), and of MS with a mean exponential rate of 4.3% per year (p<0.001). Finally, the Mean Macular Thickness significantly decreased with a mean exponential rate of 0.9% per year (p=0.009).
Our longitudinal analysis showed a progressive decline of visual functionality, although slow. Moreover, the function loss was associated with progression of retinal degeneration, detectable by OCT. Our longitudinal data about the natural disease course could be helpful to identify patients most amenable for gene therapy and to show efficacy in open label clinical trials.
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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