Bilateral cataracts, retinal detachment and vitreous hemorrhage in a newborn with congenital diaphragmatic hernia.

Congenital diaphragmatic hernia (CDH) is associated with a wide range of other malformations. We describe a patient with CDH who also had significant eye findings noted at birth.

Ophthalmic manifestation of congenital protein C deficiency.

Under normal conditions activated protein C is a natural anticoagulant that cleaves 2 activated coagulation factors, factor Va and factor VIIIa, thereby inhibiting the conversion of factor X to factor Xa and of prothrombin to thrombin. Additionally, activated protein C enhances tissue-plasminogen activator-mediated fibrinolysis by inhibition of plasminogen activator inhibitor-1. This results in an increase in circulatory plasminogen activator levels. Protein C deficiency, a genetic or acquired thrombophilic abnormality, has been demonstrated to predispose to episodes of potentially blinding and lethal thromboembolic events. Heterozygous-deficient subjects usually remain asymptomatic until adolescence or adulthood. In homozygous-deficient patients, protein C activity is usually less than 1% (reference range, 70%-140%), resulting in thromboembolism as early as in the neonatal period. The major clinical symptoms in affected newborn infants have been purpura fulminans, vitreous hemorrhage, and central nervous system thrombosis. The age of onset of the first symptoms has ranged from a few hours to 2 weeks after birth, usually after an uncomplicated full-term pregnancy and delivery. In contrast to the genetic form, acquired neonatal protein C deficiency occurs particularly in ill preterm babies. Typical complications of prematurity such as respiratory distress syndrome, necrotizing enterocolitis, and neonatal sepsis may also be present. In the medical literature, there are only a few reports of homozygous protein C deficiency in neonates. We present 2 cases of homozygous protein C deficiency with ocular and extraocular manifestation.

Ocular features other than retinopathy of prematurity in the pre-term infant.

218 premature infants born 1985-87 in Frederiksborg County were followed in the eye clinic, mainly due to the risk of developing retinopathy of prematurity (ROP). The median gestational age was 33 weeks, the median birth weight 1.750 g. ROP being analysed elsewhere, emphasis is on a) retinal haemorrhages (long-standing in 11) and vitreous bleeding (3 cases); b) the oval shape of the pre-term optic disc, considered a true finding and not merely an optical artifact; c) the pre-term presence of the optic disc cup, otherwise considered of about-term development; and d) refractive state, with myopia as a prevailing finding at post-conceptional ages shorter than 40 weeks. A shift towards hypermetropia became obvious after 2-3 months. Only 4 cases deserved the label myopia of prematurity, the criteria being early recording of ROP and persistent myopia (for more than 18-24 months).