Usher Syndrome Type 1 Associated With Primary Ciliary Aplasia | Ophthalmology | JAMA Ophthalmology | JAMA Network
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Clinicopathologic Reports, Case Reports, and Small Case Series
March 2003

Usher Syndrome Type 1 Associated With Primary Ciliary Aplasia

Arch Ophthalmol. 2003;121(3):407-408. doi:10.1001/archopht.121.3.407

Usher syndrome (USH) is an autosomal recessive defect that affects both the inner ear and retina. It is regarded as the most frequent cause of deafness-blindness in humans. Three clinical subtypes have been described, of which the most severe form, USH type 1 (USH1), is characterized by profound congenital sensorineural hearing loss, constant vestibular dysfunction, and prepubertal onset of retinitis pigmentosa.

Primary ciliary aplasia, a rare form of primary ciliary dyskinesia, is a congenital disorder of the mucociliary apparatus characterized by a total absence of epithelial cilia in cells that show the other ultrastructural features of normal ciliated cells. It is characterized by chronic infections of the upper and lower respiratory tract and by male infertility. The absence of cilia and basal bodies in respiratory mucosa makes it possible to distinguish primary ciliary aplasia from acquired ciliary defects.