Primary ciliary dyskinesia-retinitis pigmentosa syndrome

Orpha code: 247522OMIM code: 300455

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 (see this term) manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss.

Disease data
Classification

Disease

ORPHA code
247522
OMIM code
300455
ICD10 code
Q34.8
ICD11 code
LA75.Y

No additional description.

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