Journal article

Altered airway ciliary orientation in patients with X-linked retinitis pigmentosa

Gabrielle McCray, Paul Griffin, Paul Martinello, Robb de Iongh, Jonathan Ruddle, Phil Robinson

Thorax | BMJ PUBLISHING GROUP | Published : 2019


Previous reports suggested links between respiratory ciliary dysfunction and primary ciliopathies such as X-linked retinitis pigmentosa (XLRP). To investigate if patients with XLRP have abnormal airway ciliary structure or function, we assessed respiratory ciliary beat pattern and ultrastructure, including ciliary orientation, in 12 patients with XLRP without respiratory disease and 10 control subjects. Patients with XLRP had normal ciliary ultrastructure but significantly (p=0.004) increased mean ciliary deviation (33.8°±9.4°) compared with normal subjects (14.8°±5.4°). Altered orientation was associated with impaired ciliary beat pattern in six patients with XLRP. These findings indicate t..

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