RESUMO
During the past 150 years, research on amblyopia and nystagmus has developed in five different waves (W1-W5). Amblyopia was initially regarded to be enigmatic and believed to be related to eccentric fixation (W1, after 1850); later, it was ascribed to disorders in refraction or accommodation (W2, around 1900). After 1900 (W3), phylogenetic explanations appeared, and after 1945 (W4) concepts based on successful orthoptic practice came to the fore. Since 1965 (W5), research on amblyopia has been guided by modern insights into neuroanatomy and neurophysiology. In contrast to amblyopia, nystagmus has always been a well-defined symptomatic entity. Even though amblyopia and nystagmus are both symptoms of strabismus, their understanding has therefore developed along different paths. In juvenile strabismus, defects in binocularity lead to monolateral amblyopia, while defects in contour vision lead to bilateral nystagmus. In the present paper, these five waves of amblyopia research are described in more detail, with particular attention to the concepts of adaptation, visual fields, and sensory and motor functions as related to disorders in reading and accommodation.
Assuntos
Acomodação Ocular , Ambliopia/história , Dislexia/história , Estrabismo/história , Adaptação Ocular , História do Século XVI , História do Século XVII , História do Século XVIII , História do Século XIX , História do Século XX , Humanos , Transtornos da Motilidade Ocular/história , Oftalmologia/história , Pesquisa/história , Campos VisuaisAssuntos
Ataxia Cerebelar/história , Cerebelo/anormalidades , Deficiência Intelectual/história , Transtornos da Motilidade Ocular/história , Transtornos Respiratórios/história , Ataxia Cerebelar/genética , Pré-Escolar , Feminino , Genes Recessivos , História do Século XX , Humanos , Lactente , Deficiência Intelectual/genética , Masculino , Transtornos da Motilidade Ocular/genética , Linhagem , Transtornos Respiratórios/genética , SíndromeRESUMO
The 1960s were a period of great flowering in the recognition of neurologic disorders in children. The so-called ataxic cerebral palsies were an especially fertile field waiting for clarification. Congenital ataxia coupled with hyperpnea-apnea, abnormal eye movements, and retardation was identified as an autosomal-recessive syndrome eponimically associated with the senior author, Marie Joubert. The disorder, though rare, is increasingly recognized and a lay society dedicated to family support and research has been formed. In preparation for a recent symposium the original proband was re-examined 30 years later and the manifestations in adults clarified. Severe dysarthria was the most striking feature in this man, the hyperpnea-apnea had diminished, and the abnormal eye movements were less striking. Ataxia was still present but not severe. Poor judgment and borderline intelligence rounded out the clinical picture. Modern imaging has clarified, in part, the anatomic basis of this syndrome.
