N. Kamala

A Classical Sign with Uncommon Symptoms: Section Joubert Syndrome Presenting with Retinal Dystrophy and Keratoconus

Joubert Syndrome and Related Disorders (JSRD) are a rare group of autosomal recessive ciliopathies characterised by the pathognomonic molar-tooth sign on Magnetic Resonance Imaging (MRI) of the brain. The clinical manifestations are usually multisystemic and may involve multiple organs. Early diagnosis is warranted, as...