Joubert syndrome

Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

Ptosis

The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).


Total: 3

                       


(per page)
PMID (PMCID)
22291457
(3267536)
 OTHER
Adult-onset bulbar ptosis in Joubert syndrome.
Burt B, Levine J, Le K.
Clin Ophthalmol. 2012;6:151-3.
In this case report, we describe a case of adult-onset bulbar ptosis in a patient with Joubert syndrome.
22291457
(3267536)
 OTHER
Adult-onset bulbar ptosis in Joubert syndrome.
Burt B, Levine J, Le K.
Clin Ophthalmol. 2012;6:151-3.
Many ocular abnormalities have been noted in Joubert syndrome, but the association of this syndrome with adult-onset ptosis has not been described to date.
22291457
(3267536)
 OTHER
Adult-onset bulbar ptosis in Joubert syndrome.
Burt B, Levine J, Le K.
Clin Ophthalmol. 2012;6:151-3.
Adult-onset bulbar ptosis in Joubert syndrome.