Boucher-Neuhauser syndrome is an extremely rare disorder, characterized by the triad of ocular abnormalities, spinocerebellar ataxia, and hypogonadotropic hypogonadism. The ocular abnormalities include loss of vision and/or color discrimination, scotoma, retinal degeneration, photophobia, night blindness, and astigmatism. Disturbances in balance, gait and speech, nystagmus, and cerebellar atrophy are the common neurological findings observed in patients with Boucher-Neuhauser syndrome. Patients may also present with dysmetria, frontal headaches, and pes cavus. The endocrinological findings include primary amenorrhea and low LH/FSH levels in females, hypoplastic sexual organs, and sparse secondary sexual hair. The different symptoms have varied ages of onset. The ocular features may occur any time between the first and fourth decades of life, while the endocrine features become evident around puberty. The ataxic features usually manifest themselves in adolescence or early adulthood, but progress slowly.
Mutations in PNPLA6 gene, which encodes a protein named neuropathy target esterase, are identified in patients with Boucher-Neuhauser syndrome. The encoded protein is considered to be involved in differentiation of neurons and neurite outgrowth.