title: The ocular findings in infantile spasms.
abstract: The results of this study suggest that a careful ophthalmoscopic examination of children with infantile spasms will help to establish an etiologic diagnosis in at least 20% of cases. The two clinical entities identifiable by this examination are tuberous sclerosis and Aicardi's syndrome. It is emphasized that the retinal hamartomas of tuberous sclerosis seen in infancy are flat, semitransparent, and small. The mulberry-like lesion is distinctly unusual in this age group. The essential ocular feature of Aicardi's syndrome is a chorioretinopathy of the posterior pole. This may be accompanied by microphthalmus, persistent pupillary remnant, and colobomas of the optic nerve and choroid. Diagnosis of either of these two entities is helpful in establishing the prognosis for a child with infantile spasms since both of these disorders usually lead to severe neurologic handicap and premature death. Moreover, genetic counseling is essential for the family suffering with this tragic disorder. Tuberous sclerosis is inherited as an irregular dominant trait. The genetic interpretation of sporadic cases, which are in the majority, is difficult due to the presence of unrecognized incomplete or "fruste" forms within families. On the other hand, Aicardi's syndrome has never been reported to be familial and future pregnancies can be undertaken without fear of producing another child with infantile spasms.
mesh_terms: D002675:Child, Preschool; D002829:Choroid / Q000002:abnormalities; D003103:Coloboma / Q000150:complications; D005128:Eye Diseases / Q000150:complications* / Q000175:diagnosis; D005134:Eye Neoplasms / Q000150:complications; D005260:Female; D006222:Hamartoma / Q000150:complications; D006801:Humans; D007223:Infant; D008297:Male; D009900:Optic Nerve / Q000002:abnormalities; D012164:Retinal Diseases / Q000150:complications; D013035:Spasm / Q000150:complications* / Q000175:diagnosis; D013577:Syndrome; D014402:Tuberous Sclerosis / Q000175:diagnosis*