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V. J. somervuo, A. A. H. J. Thiadens, S. Roosing, M. J. van Schooneveld, N. van Moll-Ramirez, I. van den Born, A. I. den Hollander, F. P. M. Cremers, C. B. Hoyng, C. C. W. Klaver; Cone Cells Degenerate Progressively in Achromatopsia. An Imaging Study Using Spectral-Domain Optical Coherence Tomography. Invest. Ophthalmol. Vis. Sci. 2010;51(13):6298.
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Achromatopsia (ACHM) is thought to be a stationary disorder with only a few causative genes. Gene therapy may become a future therapeutic option for this disease. In order to determine the time point for future therapy, we examined the presence of cone cells in ACHM as a function of age.
We used the Spectralis Domain OCT (SD-OCT) to visualize the fovea of 40 ACHM patients of various ages and 55 healthy age-matched controls. Disease-causing mutations were investigated by direct sequencing of the CNGB3, CNGA3, and PDE6C genes. We estimated the risk of cone cell loss as a function of age with Kaplan-Meier product limit survival analysis.
Mutations were found in all patients. Absence of a foveal pit (fovea hypoplasia) was present in 24/30 (80%) of ACHM patients and 1/55 controls. The initial features of cone cell decay were disruption of the ciliary layer and the presence of a ‘bubble’ in the cone outer segments, followed by complete degeneration of the cone cell layer and retinal pigment epithelium. The risk of cone cell degeneration was 17 % by age 10; 60% by age 20, and 100% by age 40+.
ACHM is not a stationary disease. In our study, the first signs of cone cell loss occurred at 8-10 yrs. At adult age, the majority of patients had undergone cone cell degeneration. The window of time for future gene therapy is the first decade.
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