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ABSTRACT
We describe the ocular findings in eight patients with congenital myotonic dystrophy in the newborn period. While three infants had normal findings, five infants had evidence of persistent tunica vasculosa lentis (TVL) at gestational ages ranging from 34 to 40 weeks. Atrophy of vessels on the anterior lens capsule is normally complete by 34 weeks gestation and its persistence should suggest congenital infection or congenital myotonic dystrophy. Diagnosis of myotonic dystrophy has serious implications for the baby and the mother, in whom the condition may have not been recognized earlier.
INTRODUCTION
The only specific eye abnormality reported in infants with congenital myotonic dystrophy is congenital cataract formation which has been noted in only five cases by Caughey and Myrianthopoulos.1
Congenital myotonic dystrophy is a disorder of muscle tone which presents with severe hypotonia, low Apgar scores, and respiratory distress at birth. Hydramnios and decreased fetal movements are often noted during pregnancy. Clinical features include a typical myopathie facies, respiratory distress, talipes equinovarus,2 and relative macrocephaly with ventriculomegaly.3 The condition is inherited almost invariably from the infant's mother by autosomal dominant inheritance which may be diagnosed in the mother only following the birth of an affected child. The principal eye change seen in adults with myotonic dystrophy is early cataract formation2 consisting of multicolored flecks in lenses which are otherwise clear, but abnormalities of extraocular movements, retina, eyelids, and cornea may also be seen. A review of the literature failed to reveal any specific eye findings in infants who were diagnosed in the newborn period. We reviewed our findings in eight infants treated in our institution during the last 10 years.
CASE REPORTS
From 1983 to 1993, congenital myotonic dystrophy was diagnosed in 16 infants by clinical examination and the diagnosis was confirmed by mutation analysis4 in seven of the eight cases tested. In eight infants, an ophthalmologic examination was carried out during the first 16 days of life. The birth weights, gestational ages, clinical course, and ophthalmological assessment of these infants are shown in Table 1.
The mean birth weight was 2154 g (SD = 422 g), and mean gestational age 36.1 (SD = 1.9 weeks). The gestational ages were based on last menstrual period data and confirmed by ultrasound in early...