The cilia defects adversely affect "numerous critical developmental signaling pathways" essential to cellular development and thus offer a plausible hypothesis for the often multi-symptom nature of a large set of syndromes and diseases.Currently recognized ciliopathies include Joubert syndrome, primary ciliary dyskinesia (also known as Kartagener Syndrome), Bardet–Biedl syndrome, polycystic kidney disease and polycystic liver disease, nephronophthisis, Alström syndrome, Meckel–Gruber syndrome and some forms of retinal degeneration.Joubert syndrome type 2 is disproportionately frequent among people of Jewish descent. References
External links

NINDS Joubert Syndrome Information Page
Researchers Identify Joubert Syndrome Genes
GeneReviews: Joubert syndrome
NCBI Joubert Syndrome
This accounts for a more sterile procedure by keeping the eyelashes as far as possible, and reduces the chance of eliciting a blink reflex. If necessary, the eyelids can be kept open using an eyelid speculum, the examiners fingertips, a cotton tip or an assistant. Anaesthetic and pupil dilator: Local anaesthetic is instilled into both eyes in order to reduce blepharospasm. Topical oxybuprocaine 0.4% is the preferred choice as it has an onset of action of 20 seconds and a half-life of 20 minutes. A drop of topical pupil dilator such a cyclopentolate 1%, if available, can be helpful to reduce ciliary spasm after removal of the foreign body. Atropine is generally avoided due to its long-lasting mydriatic effects. Removal techniques: There are mainly two types of techniques, the choice of which will depend on the nature of the foreign body. The first technique is the cotton tip removal, which is indicated in superficial foreign bodies with no surrounding corneal reaction, and the second is the hypodermic needle or nº15 blade removal with which the complete foreign body and any surrounding rust ring can be removed. Irrigation of the ocular surface and upper and lower fornices can be performed after the procedure to wash out any residual loose foreign body material. A 10 mL ampoule of sterile saline is usually sufficient. Medications
Current recommendations stress the need to use topical and/or oral analgesia and topical antibiotics.