To the Editor.
—We read with interest the article by Weinstein et al1 on Leber's congenital amaurosis. While acknowledging that the combination of CNS abnormalities, hypotonia, and motor retardation with Leber's congenital amaurosis may not inevitably result in mental retardation, we would draw attention to the association of Joubert's syndrome with Leber's congenital amaurosis, first recognized by Tomita et al.2 Joubert's syndrome3 comprises episodic panting tachypnea and prolonged apnea in the neonate associated with jerky eye movements, agenesis of the cerebellar vermis, and brain-stem malformations. Subsequent ataxia, dysequilibrium, and mental handicap are the rule. We have seen five children with features of Joubert's syndrome and Leber's congenital amaurosis (Table).Autopsy in identical twins (cases 2 and 3) confirmed the retinal and renal pathologic features together with agenesis of the vermis and brain-stem dysgenesis. The importance of the respiratory irregularity had not been recognized at birth in any
King MD, Stephenson JBP. Association of Joubert's Syndrome With Leber's Congenital Amaurosis. Arch Neurol. 1984;41(12):1235. doi:10.1001/archneur.1984.04050230013004