Aicardi Syndrome: the Importance of an Ophthalmologist in Its Diagnosis

Overview

Journal Indian J Ophthalmol

Specialty Ophthalmology

Date 2009 Apr 23

PMID 19384023

Citations 4

Authors

Parag K Shah

V Narendran

N Kalpana

Affiliations

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Abstract

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.

Citing Articles

Ocular features in Aicardi syndrome: A case report.

Sirek S, Filipek E, Wojcik-Niklewska B, Pojda-Wilczek D, Mrukwa-Kominek E Medicine (Baltimore). 2023; 101(49):e31950.

PMID: 36626525 PMC: 9750684. DOI: 10.1097/MD.0000000000031950.

Aicardi syndrome in a prematurely born baby with retinopathy of prematurity: eye as a window to a systemic pathology.

Aggarwal D, Majhi D, Padhi T BMJ Case Rep. 2020; 13(8).

PMID: 32843379 PMC: 7449273. DOI: 10.1136/bcr-2020-235750.

Unusual Association of Aniridia with Aicardi-Goutières Syndrome-Related Congenital Glaucoma in a Tertiary Care Center.

Musalem H, Dirar Q, Al-Hazzaa S, Al Zoba A, El-Mansoury J Am J Case Rep. 2018; 19:500-504.

PMID: 29703882 PMC: 5944404. DOI: 10.12659/AJCR.908036.

Ophthalmologic findings in Aicardi syndrome.

Fruhman G, Eble T, Gambhir N, Sutton V, Van den Veyver I, Lewis R J AAPOS. 2012; 16(3):238-41.

PMID: 22681940 PMC: 3650611. DOI: 10.1016/j.jaapos.2012.01.008.

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