Primary ciliary dyskinesia-retinitis pigmentosa syndrome
ORPHA:247522· ICD-10 Q34.8
Definition
Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchiectasis and chronic sinusitis) and sensorineural hearing loss.
- Prevalence
- <1 / 1 000 000
- Inheritance
- X-linked recessive
- Age of onset
- Childhood