Purpose: To report the prevalence of ocular abnormalities in a group of children diagnosed with fetal anticonvulsant (FAC) syndrome(s).
Design: Retrospective, observational, noncomparative case series.
Participants: Forty-six children, age range 8 months to 16 years 5 months (mean, 7 years 1 month), with a confirmed diagnosis of an FAC syndrome. Thirty-seven subjects were exposed in utero to sodium valproate (29 as monotherapy), and the remainder (n = 9) to other anticonvulsants, mainly carbamazepine.
Methods: A total of 46 subjects underwent ophthalmic assessment consisting of visual acuity, cover test, ocular movements, analysis of spectacle lens power, cycloplegic refraction, and anterior segment examination with portable slit lamp, plus direct and indirect ophthalmoscopy.
Main outcome measures: Refraction and ocular motility status.
Results: Thirty-one of 46 (67%) had ocular abnormalities, most commonly errors of refraction (19 of 46; 41%). Myopia was common (14 of 28; 50%) in those exposed to valproate monotherapy and there were high frequencies of strabismus (20%), astigmatism (24%), and anisometropia (11%) in the group as a whole. Thirty-one percent of myopes and 27% of astigmates did not wear glasses, of whom three subjects and two subjects, respectively, were less than 8 years old and therefore at risk of anisometropic or ametropic amblyopia. One subject had epicanthus, one color vision deficiency, and one bilateral congenital cataract.
Conclusions: We conclude that (1) abnormal ophthalmic findings are common in subjects with confirmed FAC syndrome, in particular myopia in those with fetal valproate syndrome; (2) children with FAC syndrome should receive preschool vision testing; (3) preschool vision testing should be considered in all children exposed to anticonvulsants in utero.