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Article
December 1984

Association of Joubert's Syndrome With Leber's Congenital Amaurosis

Author Affiliations

University Department of Child Health Royal Hospital for Sick Children Yorkhill, Glasgow G3 8SJ, Scotland

Arch Neurol. 1984;41(12):1235. doi:10.1001/archneur.1984.04050230013004
Abstract

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

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