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Nasal ciliary beat frequency and beat pattern in retinal ciliopathies
Miguel Armengot1, David Salom, Manuel Diaz-Llopis
1Rhinology Unit, General and University Hospital, Medical School, Valencia University, Valencia, Spain.
Investigative Ophthalmology & Visual Science
|March 20, 2012
Summary
Nasal ciliary beat frequency is reduced in Usher syndrome type II patients, suggesting it may be a primary ciliary disorder. Retinitis pigmentosa patients showed normal nasal ciliary function.
Area of Science:
- Ophthalmology
- Genetics
- Cell Biology
Background:
- Photoreceptor cilia share ultrastructural similarities with nasal ciliated epithelium.
- Investigating nasal cilia function offers insights into potential ciliary dysfunction in retinal diseases.
Purpose of the Study:
- To compare nasal ciliary beat frequency (CBF) and beat pattern in patients with retinitis pigmentosa (RP) and Usher syndrome type II versus healthy controls.
- To determine if Usher syndrome or RP are associated with altered nasal ciliary function.
Main Methods:
- A prospective, comparative control study design was employed.
- Nasal mucosa samples from 13 RP patients, 4 Usher syndrome type II patients, and 32 healthy controls were analyzed.
- High-resolution digital high-speed video imaging (DHSV) was used to measure nasal CBF and beat pattern.
Main Results:
- Nasal CBF was significantly lower in Usher syndrome type II patients (9.28 ± 0.4 Hz) compared to controls (10.82 ± 1.39 Hz).
- No significant difference in nasal CBF was found between RP patients (10.59 ± 1.54 Hz) and controls.
- All participants exhibited a normal ciliary beat pattern.
Conclusions:
- Usher syndrome type II is associated with diminished nasal ciliary beat frequency.
- Simplex retinitis pigmentosa patients maintain normal nasal ciliary function.
- These findings support the hypothesis that Usher syndrome may be a primary ciliary disorder.
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