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

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.