ArticleNeuro-ophthalmology (Aeolus Press)2025
Ophthalmic, Neurological, Radiological, and Visual Rehabilitation Profile and Outcomes in a Cohort of Patients with Joubert Syndrome.
Article in Neuro-ophthalmology (Aeolus Press), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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 ( 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.
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