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...

Descripción completa

Detalles Bibliográficos
Autores principales: Shah, Parag K, Narendran, V, Kalpana, N
Formato: Texto
Lenguaje:English
Publicado: Medknow Publications 2009
Materias:
Brief Communications
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
_version_ 1782167117676675072
author Shah, Parag K
Narendran, V
Kalpana, N
author_facet Shah, Parag K
Narendran, V
Kalpana, N
author_sort Shah, Parag K
collection PubMed
description 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.
format Text
id pubmed-2683450
institution National Center for Biotechnology Information
language English
publishDate 2009
publisher Medknow Publications
record_format MEDLINE/PubMed
spelling pubmed-26834502009-05-27 Aicardi syndrome: The importance of an ophthalmologist in its diagnosis Shah, Parag K Narendran, V Kalpana, N Indian J Ophthalmol Brief Communications 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. Medknow Publications 2009 /pmc/articles/PMC2683450/ /pubmed/19384023 http://dx.doi.org/10.4103/0301-4738.49403 Text en © Indian Journal of Ophthalmology http://creativecommons.org/licenses/by/2.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Brief Communications
Shah, Parag K
Narendran, V
Kalpana, N
Aicardi syndrome: The importance of an ophthalmologist in its diagnosis
title Aicardi syndrome: The importance of an ophthalmologist in its diagnosis
title_full Aicardi syndrome: The importance of an ophthalmologist in its diagnosis
title_fullStr Aicardi syndrome: The importance of an ophthalmologist in its diagnosis
title_full_unstemmed Aicardi syndrome: The importance of an ophthalmologist in its diagnosis
title_short Aicardi syndrome: The importance of an ophthalmologist in its diagnosis
title_sort aicardi syndrome: the importance of an ophthalmologist in its diagnosis
topic Brief Communications
url 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
work_keys_str_mv AT shahparagk aicardisyndrometheimportanceofanophthalmologistinitsdiagnosis
AT narendranv aicardisyndrometheimportanceofanophthalmologistinitsdiagnosis
AT kalpanan aicardisyndrometheimportanceofanophthalmologistinitsdiagnosis

Ejemplares similares