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Infantile Esotropia: An Inevitable Legacy?

Correspondence: Requests for reprints should be addressed to: Dra. Maria Cristina Sarubbi, M.D., Colombres 226.11 A. Lomas de Zamora, (1832), Buenos Aires, Argentina.

Introduction and Purpose: To investigate the clinical signs and electrooculographic (EOG) records in first-degree relatives of patients with infantile esotropia.

Subjects and Method: Eight families were randomly selected with at least one member with Ciancia syndrome, a common form of infantile esotropia. Both patients and normal relatives underwent a complete visual and ocular motility examination. The pursuit, optokinetic nystagmus (OKN) and saccadic eye movements were recorded by EOG.

Results: Every family had either clinical and/or EOG anomalies in the examination of apparently normal relatives. Awide spectrum of abnormalities was found. Fourteen relatives had clinical abnormalities, with reduced stereopsis being the most frequently found. Twelve had EOG anomalies, especially in the OKN tracings.

Conclusion: Infantile esotropia should be considered a familial disease, where relatives who fail to meet all the criteria for the diagnosis still show some of its features. We suggest that asymmetry of OKN, impairment of pursuit movements, reduced stereopsis, and nystagmus in abduction are subclinical signs of the condition, which are frequently present in otherwise normal relatives. We highlight the importance of a positive family history of strabismus to further understand the genetic factors responsible for the transmission of infantile esotropia.

Key words: infantile esotropia, relatives, inheritance