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. 2025 Feb 10;49(3):249-254.
doi: 10.1080/01658107.2025.2460176. eCollection 2025.

Ophthalmic, Neurological, Radiological, and Visual Rehabilitation Profile and Outcomes in a Cohort of Patients with Joubert Syndrome

Manjushree Bhate  1 , Shivani Bansal Bhandari  1 , Deiva Jayaraman  2 , Ravi Varma  3 , Subhadra Jalali  1   4
Affiliations

Ophthalmic, Neurological, Radiological, and Visual Rehabilitation Profile and Outcomes in a Cohort of Patients with Joubert Syndrome

Manjushree Bhate et al. Neuroophthalmology. .

Abstract

Objective: To report the ophthalmic, neurological, and radiological profile in a cohort of patients suspected with Joubert syndrome (JS).

Methods: A retrospective review of electronic medical records of patients diagnosed with or referred as a diagnosed case of JS was conducted. Clinical profile, visual electrophysiology, and rehabilitation, along with radiologic features, were studied.

Results: Total 26 patients were studied, mean age at presentation was 4.6 (±2.8) years, and the male-to-female ratio was 3.3:1. Among patients with quantitative vision assessment (n = 11; 42.3%), severe visual impairment was noted in the better eye at presentation in five patients (45.5%), while moderate vision loss was observed in six patients (54.5%). Fixing following light or no fixation was documented in 15 patients. Astigmatism (with hyperopia/myopia) was the most common refractive error in 14 patients (14/26; 53.84%), and high hypermetropia >+6D was noted in five patients (5/26; 19.23%). Exotropia was more frequent (n = 13; 50%) in patients. Head thrust/oculomotor apraxia was noted in four (15.3%) and retinal dystrophy in eight (32%) patients. Electroretinogram (n = 5/8) testing revealed subnormal or undetectable scotopic and photopic responses. MRI brain revealed a molar tooth sign in all patients (n = 26; 100%). Rehabilitation specialists evaluated 16 children with a range of follow-up visits (1-33 visits), and improvement in visual acuity was noted in eight children.

Conclusions: In our cohort, visual impairment with abnormal eye movements and generalized hypotonia were the most consistent clinical features, and a molar tooth sign on MRI brain was the most consistent radiological feature. Neuro-imaging should be considered in all. Visual rehabilitation plays a crucial role in the multidisciplinary management.

Keywords: Joubert syndrome; Leber congenital amaurosis; generalized hypotony; molar tooth sign; visual rehabilitation.

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Conflict of interest statement

No potential conflict of interest was reported by the author(s).

Figures

Figure 1.
Figure 1.
(a) External photo depicts upper eyelid ptosis in a child with Joubert syndrome. (b,c) – fundus photos of right and left eyes depict pigmentary changes and arteriolar attenuation.
Figure 2.
Figure 2.
Molar tooth sign on MRI brain.
Figure 3.
Figure 3.
Bat-wing sign on MRI brain.
See this image and copyright information in PMC

References

    1. Joubert M, Eisenring JJ, Robb JP, Andermann F.. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology. 1969;19(9):813–813. doi: 10.1212/WNL.19.9.813. - DOI - PubMed
    1. Maria BL, Boltshauser E, Palmer SC, Tran TX.. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol. 1999;14(9):583–591. doi: 10.1177/088307389901400906. - DOI - PubMed
    1. Choh SA, Choh NA, Bhat SA, Jehangir M. Mri findings in Joubert syndrome. Indian J Pediatr. 2009;76(2):231–235. doi: 10.1007/s12098-008-0232-1. - DOI - PubMed
    1. Khan AO, Oystreck DT, Seidahmed MZ, et al. Ophthalmic features of Joubert syndrome. Ophthalmology. 2008;115(12):2286–2289. doi: 10.1016/j.ophtha.2008.08.005. - DOI - PubMed
    1. Nag C, Ghosh M, Das K, Ghosh T. Joubert syndrome: the molar tooth sign of the mid-brain. Ann Med Health Sci Res. 2013;3(2):291–294. doi: 10.4103/2141-9248.113686. - DOI - PMC - PubMed

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