Peripapillary hypopigmented lesion in an infant
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A 1‑year‑old girl child suffering from infantile spasms was referred for fundus evaluation from department of pediatrics. The baby was a second offspring for the parents, born at full term by C‑section, and assessed to have delayed developmental milestones. The child was following light and objects with both eyes. Ocular examination revealed normal anterior segments and reactive pupils in both eyes. Dilated fundus examination revealed anomalous disc with peripapillary atrophy and multiple hypopigmented lesions of less than1 disc area size surrounding the disc in right [Fig. 1a] more than left eye [Fig. 1b].

MRI brain revealed agenesis of corpus callosum with dilatation of the occipital and frontal horns of the lateral ventricles [Fig. 1c and d]. Electroencephalography (EEG) also revealed abnormal patterns. The aforementioned investigations, along with infantile spasms and chorioretinal lacunae on fundus examination completed the triad of Aicardi syndrome. The child was advised refraction and periodic fundus examination. Infantile spasms were managed by the pediatric neurology team with oral steroids and antiepileptics. The child was also advised exercises and therapy for gait disorder.

Aicardi syndrome consists of triad of infantile spasms, agenesis of corpus callosum, and chorioretinal lacunae. Hallmark ophthalmologic feature is the presence of chorioretinal lacunae. Associated ocular features can be microphthalmos, persistent pupillary membrane, iris synechiae, cataract, dysplasia/coloboma of the optic nerve, anomalous retinal vessels, and retinal detachment. Affected individuals can have developmental delay, intellectual disability, and skeletal abnormalities. They are also at risk of developing tumors, such as choroid plexus papillomas, arachnoid cysts, palatal hemangioma, angiosarcomas, and hepatoblastomas.

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