Ophthalmologic Findings in Aicardi Syndrome

Overview

Journal J AAPOS

Specialty Pediatrics

Date 2012 Jun 12

PMID 22681940

Citations 16

Authors

Gary Fruhman

Tanya N Eble

Nikki Gambhir

V Reid Sutton

Ignatia B Van den Veyver

Richard A Lewis

Affiliations

Soon will be listed here.

Abstract

Background: Aicardi syndrome is a rare X-linked disorder that has been characterized classically by agenesis of the corpus callosum, seizures, and the finding of chorioretinal lacunae. This triad has been augmented more recently by central nervous system and ocular findings. The goal of this study was to determine how frequently other ophthalmologic findings are associated with Aicardi syndrome.

Methods: A single ophthalmologist recorded the ocular and adnexal findings of 40 girls with this disorder at the annual meeting of an Aicardi syndrome family support group. For each subject, the examiner performed facial anthropometrics, portable biomicroscopy, and, where feasible, indirect ophthalmoscopy.

Results: The most common findings were chorioretinal lacunae in 66 (88%) of 75 eyes and optic nerve abnormalities in 61 (81%) of 75 eyes. Other less common findings included persistent pupillary membrane in 4 (5%) of 79 eyes and anterior synechiae in 1 of 79 eyes (1%).

Conclusions: Although the ophthalmic hallmark and defining feature of Aicardi syndrome is the cluster of distinctive chorioretinal lacunae surrounding the optic nerve(s), the spectrum of ocular, papillary, and retinal anomalies varies widely, from nearly normal to dysplasia of the optic nerve and to severe microphthalmos.

Citing Articles

Systematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published cases.

Urban O, Driedger J, Garbade S, Hoffmann G, Kolker S, Ries M Orphanet J Rare Dis. 2024; 19(1):457.

PMID: 39633384 PMC: 11616230. DOI: 10.1186/s13023-024-03375-8.

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR)- the new lacunae: a case report.

Silva N, Silva R, Magalhaes A BMC Ophthalmol. 2024; 24(1):372.

PMID: 39187757 PMC: 11345952. DOI: 10.1186/s12886-024-03627-y.

Aicardi Syndrome Is a Genetically Heterogeneous Disorder.

Ha T, Burgess R, Newman M, Moey C, Mandelstam S, Gardner A Genes (Basel). 2023; 14(8).

PMID: 37628618 PMC: 10454071. DOI: 10.3390/genes14081565.

A rare case of bilateral vitreoretinopathy of Aicardi syndrome.

Kang E, Chong Y, Lien R, Wu W Am J Ophthalmol Case Rep. 2022; 26:101467.

PMID: 35345580 PMC: 8956863. DOI: 10.1016/j.ajoc.2022.101467.

Prenatal diagnosis of Aicardi syndrome based on a suggestive imaging pattern: A multicenter case-series.

Pomar L, Ochoa J, Cabet S, Huisman T, Paladini D, Klaritsch P Prenat Diagn. 2022; 42(4):484-494.

PMID: 34984691 PMC: 9302986. DOI: 10.1002/pd.6085.

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