Congenital ocular motor apraxia with wheel-rolling ocular torsion—a neurodiagnostic phenotype of Joubert syndrome

Papanagnu, Eleni; Klaehn, Lindsay D.; Bang, Genie M.; Ghadban, Rafif; Mohney, Brian G.; Brodsky, Michael C.

doi:10.1016/j.jaapos.2014.03.006

Cited by 11 publications

(7 citation statements)

References 12 publications

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“…Additionally observed symptoms include frequent cyclic deviations of the eyes, including periodic alternating gaze deviation, periodic alternating skew deviation, periodic alternating torsional deviation, and a lateral alternating skew deviation that produces an alternating hyperdeviation of the abducting eye. [8,36,43,57,60,63,67,72,73,74,75,76,77,78,79,80,81,82,83,84,85,86,87,88,89,90]. Wheel rolling torsional eye movements from extreme excyclodeviation to extreme incyclodeviation have also been observed in patients with periodic alternating skew deviation and paroxysmal skew deviation [91].…”

Section: Ocular Colobomasmentioning

confidence: 99%

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Review of Ocular Manifestations of Joubert Syndrome

Wang

Kowal

Ning

et al. 2018

Genes

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Joubert syndrome is a group of rare disorders that stem from defects in a sensory organelle, the primary cilia. Affected patients often present with disorders involving multiple organ systems, including the brain, eyes, and kidneys. Common symptoms include breathing abnormalities, mental developmental delays, loss of voluntary muscle coordination, and abnormal eye movements, with a diagnostic “molar tooth” sign observed by magnetic resonance imaging (MRI) of the midbrain. We reviewed the ocular phenotypes that can be found in patients with Joubert syndrome. Ocular motor apraxia is the most frequent (80% of patients), followed by strabismus (74%) and nystagmus (72%). A minority of patients also present with ptosis (43%), chorioretinal coloboma (30%), and optic nerve atrophy (22%). Although mutations in 34 genes have been found to be associated with Joubert syndrome, retinal degeneration has been reported in only 38% of patients. Mutations in AHI1 and CEP290, genes critical to primary cilia function, have been linked to retinal degeneration. In conclusion, Joubert syndrome is a rare pleiotropic group of disorders with variable ocular presentations.

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Section: Ocular Colobomasmentioning

confidence: 99%

“…Abnormal eye movements, including primary position nystagmus, are a common feature in JS [11,14,43,57,65,67,72,73,77,79,84,85,86,87,90,94,95,96,97,98,99,100,101,102,103,104,105]. Fluxes in gaze holding, an early symptom, were described in a study of six patients with JS.…”

Section: Ocular Colobomasmentioning

confidence: 99%

Review of Ocular Manifestations of Joubert Syndrome

Wang

Kowal

Ning

et al. 2018

Genes

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“…Neuro-ophthalmological rehabilitation to improve fixation and pursuit is recommended in affected patients before surgical intervention. 1,36,37 Although ptosis is known to occur in JS, its characteristics and frequency in individual JS genotypes are not well described and few management guidelines exist. In our cohort, only the AHI1-and KIAA0586-related JS cases exhibited no ptosis.…”

Section: Clinical Findings In Contextmentioning

confidence: 99%

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center

et al. 2018

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We recommend regular monitoring for ophthalmological manifestations of JS beginning soon after birth or diagnosis. We demonstrate delayed visual development and note that the amblyogenic time frame may last significantly longer in JS than is typical. In general, patients with coloboma were less likely to display retinal degeneration, and those with retinal degeneration did not have coloboma. Severe retinal degeneration that is early and aggressive is seen in disease caused by specific genes, such as CEP290- and AHI1-associated JS. Retinal degeneration in INPP5E-, MKS1-, and NPHP1-associated JS was generally milder. Finally, ptosis surgery can be helpful in a subset of patients with JS; decisions as to timing and benefit/risk ratio need to be made on an individual basis according to expert consultation.

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“…There can be frequent and periodic cyclic deviations of the eye, such as alternate gaze deviation, ASD, alternate torsional deviation, and wheel rolling torsional eye movements. Cyclic alternate torsional deviations, a type of OTR, are diagnostic of JS when seen in association with COMA [ 14 , 15 ]. It is characterized by spontaneous skew deviation, cyclotorsion of both eyes and paroxysmal head tilting, and it shares similarity with episodic apnea hyperpnea.…”

Section: Discussionmentioning

confidence: 99%

Clinical and Imaging Profile of Patients with Joubert Syndrome

Surisetti

Holla

Prasad

et al. 2021

JMD

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Objective Joubert syndrome (JS) is a rare syndrome characterized by ataxia and the molar tooth sign (MTS) on imaging. The present study aims to explore the clinical and radiological features in a cohort of patients with JS.Methods This was a retrospective chart review of patients with JS evaluated by movement disorder specialists.Results Nine patients were included in the study. All patients had facial dysmorphism and ocular abnormalities, and 4 patients had dystonia. Ocular tilt reaction and alternate skew deviation (66%) were the most common ocular abnormalities. Horizontally aligned superior cerebellar peduncles were observed in all four patients with diffusion tensor imaging, with a lack of decussation in three. Exome sequencing performed in four patients revealed novel variants in the MKS1, CPLANE1, and PIBF1 genes.Conclusion Facial dysmorphism, ocular abnormalities and classical imaging findings were observed in all patients with JS. Apart from ataxia, dystonia and myoclonus are other movement disorders observed in JS.

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Congenital ocular motor apraxia with wheel-rolling ocular torsion—a neurodiagnostic phenotype of Joubert syndrome

Cited by 11 publications

References 12 publications

Review of Ocular Manifestations of Joubert Syndrome

Review of Ocular Manifestations of Joubert Syndrome

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center

Clinical and Imaging Profile of Patients with Joubert Syndrome

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