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J.-M. Rozet, I. Perrault, J.-F. Papon, A. Coste, B. Louis, S. Hanein, L. Fares Taie, S. Gerber, E. Escudier, J. Kaplan; Leber Congenital Amaurosis Associated With Abnormalities of Respiratory Cilia. Invest. Ophthalmol. Vis. Sci. 2010;51(13):4500.
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7 patients in 6 families were ascertained. They were either homozygote for loss-of-function alleles or the hypomorphic CEP290 c.2991_1655A>G mutation or compound heterozygote for each mutation type.Patients were examined for ENT symptoms and olfaction. Airway biopsies were obtained from nasal mucosa to allow transmission electron microscopy (TEM) analysis of cilia ultrastructure and High-speed videomicroscopy (HSV) for evaluation of ciliary beat pattern.
6/7patients had ENT history and presented with constant edema and/or congestion of the mucosa. Olfaction acuity was slightly impaired in 3 patients and 1presented with slight unilateral hypoacousia. One patient had no reported ENT history but he presented oligoasthenospermia and bilateral transmission hypoacousia.TEM analyses identified absence of cilia in two patients with an epithelial morphology suggestive a loss of ciliary differentiation. In the other 5 patients, high levels of abnormal cilia were noted (mean 48.2 %). Axonemal structural defects of peripheral microtubules, dynein arms and central microtubules were evidenced alone or in combination. HSVshowed significantly decreased numbers of ciliated cells compared to controls and significant percentages of short cilia i.e.<4µm (mean 13.6%). 85 % to 100 % of cells were beating but slight or significant beating abnormalities were evidenced in 4 patients. No genotype correlation could be drawn.
These data provide the first argument for respiratory cilia abnormalities in non-syndromic LCA due to CEP290 mutations demonstrating that this non-syndromic LCA should be regarded as a member of the fast increasing family of ciliopathies.
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