Ординатура / Офтальмология / Английские материалы / Handbook of Pediatric Eye and Systemic Disease_Wright, Spiegel, Thompson_2006

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CHAPTER 8: SELECTED GENETIC SYNDROMES WITH OPHTHALMIC FEATURES 431

independent bursts (BIBs). Hypotonia and psychomotor retardation are present.

Ophthalmic examination reveals pathognomonic chorioretinal lacunae (Fig. 8-1). These are typically bilateral, although they may be asymmetrical and/or unilateral.23,26,81 They are typically clustered around the optic nerve,202 and range in size from 0.1 to 3 disc diameters,45,81 although lacunae larger than 5 disc diameters have been reported.123 These lesions represent absent choroidal pigment and retinal pigment epithelium with intact overlying retina (although the retinal architecture may be abnormal).153 These lesions are stable from birth, and visual prognosis is excellent unless the lesions involve the macula, in which case poor vision is likely. Large lacunae have been associated with low levels of cognitive and motor development.123 The differential diagnosis for the chorioretinal lacunae includes toxoplasmosis lesions and chorioretinal colobomas.

Fifty percent of children with AS have optic nerve colobomas.26,45 Mild to moderate optic nerve hypoplasia, microphthalmia, pupillary membrane, posterior synechiae, posterior polar cataract, and epipapillary and epiretinal gliosis have also been reported.57 Previous reports of retro-orbital cysts in these eyes172 actually represent optic nerve colobomas on MRI.

Electroretinography (ERG) and visual evoked potentials (VEP) are usually normal. The role of ERG and VEP in this entity is of limited predictive value for establishing visual function or diagnosis.123

Clinical Assessment and Systemic Associations

Clinical assessment of a patient suspected to have Aicardi’s syndrome includes a dilated fundus examination for the typical chorioretinal lacunae, electroencephalography for hypsarrythmia, and neuroradiologic studies for characteristic malformations and tumors.

Neuroimaging typically reveals agenesis of the corpus callosum (total or partial), as well as cortical migration defects (heterotopic gray matter). Microgyria, cortical and subependymal heterotopias of gray matter, hemispheric asymmetry, ventriculomegaly, unilateral lissencephaly, absence of the pineal gland, cerebellar malformations, and Dandy–Walker cyst have all been identified in connection with AS.151,169,172,179 Arachnoid cysts are a common finding in the posterior fossa as well as the supratentorial compartment. Papilloma of the choroid plexus is a