Laterality of Brain and Ocular Lesions in Aicardi Syndrome

Abstract

This study reports a large case series of children with Aicardi syndrome. A new severity scoring system is established to assess sidedness of ocular and brain lesions. Thirty-five children were recruited from Aicardi syndrome family conferences. All children received dilated ophthalmologic exams, and brain MRI’s were reviewed. Ocular and brain MRI Aicardi lesion severity scores were devised. A linear mixed model was used to compare each side for the ocular and brain MRI severity scores of Aicardi associated disease. Twenty-six children met inclusion criteria for the study. All subjects were female, ages 3 months to 19 years. Rates per child of optic nerve coloboma, severe lacunae, and microphthalmos in one or both eyes (among those with complete fundus exams available) were 10/24 (42%), 8/22 (36%), and 7/26 (27%), respectively. Ocular and brain MRI asymmetry was found in 18% (4/22) and 58% (15/26) of subjects, respectively, with more right sided brain lesions than left (V=52, P=0.028). A significant correlation between sidedness of brain disease and microphthalmos was seen (T = 2.54, P = 0.02). This study substantiates the range and severity of Aicardi syndrome associated ophthalmologic and brain MRI lesions from prior smaller case series.

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

“…Microphthalmus can restrict full fundal examination and is felt to be associated with a high rate of posterior segment disease. 12 Our study supports this finding with all six of the microphthalmic eyes in our cohort having optic disc abnormalities and two of the eyes having peripheral retinal changes. To our knowledge, patients described in recent study cohorts have not had EUA examinations to reliably determine associated posterior segment findings in microphthalmic eyes.…”

“…12 This is a novel finding with significant implications for visual prognosis in these patients. Both eyes with this finding had visual acuity of no perception of light (NPL), both developed chronic retinal detachment and one eye ultimately became phthisical.…”

“…To our knowledge, patients described in recent study cohorts have not had EUA examinations to reliably determine associated posterior segment findings in microphthalmic eyes. 7,12 Four of our patients with microphthalmic eyes had associated iris abnormalities. Two had inferior iris colobomas, which have previously been described in the literature.…”

Congenital Anomalies of the Optic Nerve

“…35 Other conditions like CHARGE association, Aicardi syndrome, Goldenhar sequence, and Walker-Warburg syndrome have also been associated with ODC. [36][37][38][39] Additional management in these patients includes use of sunglasses to reduce the photophobia and treatment for anisometric amblyopia in cases of low visual acuity.…”

“…CNS anomalies include agenesis of the corpus callosum and other malformations such as colpocephaly and cerebral hemispheric asymmetry. 37 …”