Purchase this article with an account.
K. K. Suk, G. A. Lalwani, T. G. Murray, D. Hess, A. M. Berrocal; Retinal Findings in Patients With Aicardi Syndrome. Invest. Ophthalmol. Vis. Sci. 2010;51(13):2209.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
To describe the retinal findings of patients with Aicardi syndrome.
A retrospective, observational case series between 1996 and 2008. Fundus photographs of patients clinically and radiographically diagnosed with Aicardi syndrome were reviewed. Clinical findings recorded included the size, number and distribution of chorioretinal lacunae, as well as the presence of optic nerve abnormalities, vascular abnormalities and other ocular abnormalities such as microphthalmos.
The study included 22 eyes of 11 patients diagnosed with Aicardi. All eyes had chorioretinal lacunae. 6 eyes had > 10 lacunae and 18 eyes had chorioretinal lacunae involving the macula. The majority of the lesions were > 1 disc diameter in 4 eyes, while 15 eyes had at least one lacuna larger than 1 disc diameter. Two eyes had hyperpigmented lesions, which both developed choroidal neovascularization (CNV). 5 eyes had a hypoplastic optic nerve, 4 had a coloboma and one had a morning glory anomaly.
The clinical presentation of Aicardi syndrome is varied. A uniform characteristic in our series was chorioretinal lacunae, but the distribution and size ranged widely. Optic nerve abnormalities were present in most of the eyes. One eye developed choroidal neovascularization and was successfully treated with intravitreal bevacizumab. A better understanding of the clinical characteristics of Aicardi syndrome may give insight into its relation to the severity of the disease, as well as a better understanding of the pathophysiology.
This PDF is available to Subscribers Only