Ophthalmic, Neurological, Radiological, and Visual Rehabilitation Profile and Outcomes in a Cohort of Patients with Joubert Syndrome
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.
Authors
- Manjushree Bhate (ORCID: https://orcid.org/0000-0002-3826-3506)
- Deiva Jayaraman
- Subhadra Jalali (ORCID: https://orcid.org/0000-0003-4157-0539)
- Sunil Bhandari (ORCID: https://orcid.org/0000-0002-0996-9622)
- Ravi Prasad Varma (ORCID: https://orcid.org/0000-0002-1147-9622)
Institutions
- Citigroup (US)
- L V Prasad Eye Institute (IN)
Publication Details
- Journal
- Neuro-Ophthalmology
- Published
- 2025-02-10
- DOI
- https://doi.org/10.1080/01658107.2025.2460176
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Hyderabad Eye Research Foundation