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Aicardi syndrome: The importance of an ophthalmologist in its diagnosis

Aicardi syndrome is a rare genetic disorder. The salient features of this syndrome include agenesis of corpus callosum, chorioretinal lacunae and infantile spasms. Of these three, chorioretinal lacunae is the most constant feature present. This case highlights the importance of fundus findings by an...

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Detalles Bibliográficos
Autores principales: Shah, Parag K, Narendran, V, Kalpana, N
Formato: Texto
Lenguaje:English
Publicado: Medknow Publications 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2683450/
https://www.ncbi.nlm.nih.gov/pubmed/19384023
http://dx.doi.org/10.4103/0301-4738.49403
Descripción
Sumario:Aicardi syndrome is a rare genetic disorder. The salient features of this syndrome include agenesis of corpus callosum, chorioretinal lacunae and infantile spasms. Of these three, chorioretinal lacunae is the most constant feature present. This case highlights the importance of fundus findings by an ophthalmologist in making the diagnosis of this rare syndrome.