X-linked retinitis pigmentosa and sinorespiratory infections

info · Syndrome

A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.4.

Signs and symptoms

Recurrent Haemophilus influenzae infection
High-frequency hearing impairment
Recurrent bronchitis
Chronic sinusitis
Atelectasis
Rod-cone dystrophy
Otitis media

Also known as: primary ciliary dyskinesia-retinitis pigmentosa syndrome