Primary ciliary dyskinesia - retinitis pigmentosa (Q99754): Difference between revisions
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Revision as of 16:25, 16 August 2026
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 bronchorrhoea with bronchiectasis and chronic sinusitis) and sensorineural hearing loss
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_569955728 |
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| English | Primary ciliary dyskinesia - retinitis pigmentosa |
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 bronchorrhoea with bronchiectasis and chronic sinusitis) and sensorineural hearing loss |
