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Revista mexicana de oftalmología

versión On-line ISSN 2604-1227versión impresa ISSN 0187-4519

Resumen

KIM, Hae Jin et al. Aicardi syndrome: a case report. Beyond ophthalmology. Rev. mex. oftalmol [online]. 2021, vol.95, n.4, pp.167-170.  Epub 30-Jul-2021. ISSN 2604-1227.  https://doi.org/10.24875/rmo.m20000142.

Purpose:

Aicardi syndrome was originally described in 1965, as a triad of abnormalities that includes partial or total agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms.

Case report:

A 1-month-old female was evaluated in the Genetics department with a history of epilepsy, total agenesis of the corpus callosum, and vertebral dysgenesis with scoliosis identified during a previous neurological evaluation. An ophthalmological examination revealed microphthalmia of the right eye and microcornea in the left eye; the rest of the anterior segment showed no alterations. Fundoscopy revealed chorioretinal lesions compatible with chorioretinal lacunae that integrated the diagnosis of Aicardi syndrome.

Conclusions:

We emphasize the importance of a careful ophthalmologic examination in all patients to identify ophthalmological and systemic abnormalities at an early age and the development and implementation of an individualized therapy plan.

Palabras llave : Agenesis of the corpus callosum; Chorioretinal lacunae; Aicardi syndrome.

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