Retinitis pigmentosa and bronchiectasis: a case report on a rare association suggestive of a common underlying primary ciliary dyskinesia (PCD).
We describe a case of retinitis pigmentosa, associated with bronchiectasis, as the first sign of primary ciliary dyskinesia (PCD). Only a few cases were described in the literature and the association of both diseases is not obvious at first sight, although a common ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina seems to be the common factor. It is important to recognize the association and to question patients with retinitis pigmentosa about their respiratory functions, because an early diagnosis of PCD can prevent recurrent infections and development of bronchiectasis with daily physiotherapy.
De Brauwer
P J
PJ
Department of Ophthalmology, CHU Liège, Belgium. peterjan_debrauwer@hotmail.com
Blaise
P
P
Hermans
G
G
Boniver
V
V
Bartsch
P
P
Rakic
J M
JM
D000328:Adult; D001987:Bronchiectasis / Q000209:etiology*; D002925:Ciliary Motility Disorders / Q000150:complications* / Q000175:diagnosis*; D006801:Humans; D008297:Male; D012174:Retinitis Pigmentosa / Q000209:etiology*