A clinical study of Aicardi syndrome in Northern Ireland: the spectrum of ophthalmic findings

Abstract

PurposeAicardi syndrome is a rare disorder, affecting ~1 in 100 000 live births. Chorioretinal lacunae feature alongside agenesis of the corpus callosum and spasms in flexion to make up a diagnostic triad. Recently ophthalmic findings such as microphthalmia and optic disc anomalies have been recognised in association with Aicardi syndrome. This population study aims to determine the presence of ocular findings and identifies some novel associations in these patients.MethodsA retrospective review of charts for seven patients with Aicardi syndrome was carried out.ResultsThe incidence of Aicardi syndrome in Northern Ireland was found to be 1 in 110 000 live births. Four patients who had microphthalmus also had iris abnormalities; two patients with bilateral microphthalmus had partial aniridia and two patients with unilateral microphthalmus had iris coloboma in the same eye. Optic disc abnormalities were found in 11 eyes of six patients. Two patients were found to have areas of fibrovascular proliferation with a thickened white ridge and avascular zone beyond. Both of these patients developed retinal detachments.ConclusionsOur review of patients with Aicardi syndrome in Northern Ireland has revealed some novel clinical findings, including aniridia in two cases. We also found a higher than previously reported rate of excavated disc anomalies of 50% in our cohort. We found two cases of peripheral retinal dysplasia, which has not been previously reported. This finding was associated with microphthalmus and severe optic disc abnormalities, and we feel this warrants early EUA to enable early treatment and hopefully result in better visual prognosis.

Figure 1

Patient 5. (a) Fluorescein angiogram: left eye at presentation showing morning glory disc, chorioretinal lacunae, fibrovascular ridge, and peripheral non-perfused retina. (b) Left eye 2 weeks later with inferotemporal retinal detachment. (c) Right eye at presentation with optic disc coloboma and chorioretinal lacunae.

Figure 2

Patient 6. (a) Right eye with normal sized-globe and pupil. (b) Left microphthalmic eye with irregular pupil and small inferior iris notch (obscured by light artefact). (c) Right eye with optic disc coloboma and chorioretinal lacunae. (d) Left eye with optic disc coloboma, chorioretinal lacunae, peripheral non-perfused retina, and retinal detachment at presentation.