Primary ciliary dyskinesia - retinitis pigmentosa (Q99754): Difference between revisions
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Discinesia ciliar primária - retinite pigmentosa é uma disfunção ciliar ligada ao X do epitélio respiratório e dos fotorreceptores da retina levando a transtornos oculares (cegueira noturna leve, redução do campo visual e respostas de ERG [Eletrorretinograma] escotópicas e fotópicas reduzidas para 30-60%) associados a manifestações de discinesia ciliar primária (broncorreia crônica com bronquiectasia e sinusite crônica) e perda auditiva neurossensorial. | |||
| description / en | description / en | ||
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 | |||
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 |
