Microcephaly, microphthalmia, congenital cataract, with calcification of the basal ganglia: MCA/MR syndrome.

We present a Hungarian girl with microcephaly, microphthalmia, congenital cataract, prominent nasal root, peaked nose, micrognathia with high arched palate, mild mental retardation, calcification of the basal ganglia and serology for the connatal infections. We suggest that our proband may be an allelic variant of COFS syndrome.

[Prospective biochemical study of the antioxidant defense capacity in retinopathy of prematurity].

The study was carried out on 60 oxygen-treated premature infants weighed less than 2000 g (1529 +/- 302 g, x mean +/- S. D.) and on their mothers.

Electrophysiologic alterations in patients with optic nerve hypoplasia.

The clinical and electrophysiologic data (electroretinograms and visual evoked potentials) were studied in 45 patients with optic nerve hypoplasia. The patients were divided into three fairly distinct groups on the basis of their electrophysiologic alterations. Group 1 consisted of 13 patients with almost extinguished visual evoked potentials and with mild electroretinographic alterations.

[Retrospective biochemical study of the preventive property of antioxidants in retinopathy of prematurity].

Oxygen radical injury may be one of the factors leading to Retinopathy of Prematurity. It occurs when the body's natural antioxidant capacity is overwhelmed by the free oxygen radicals produced during the perinatal period. Supposing, that premature infants may have defects in their antioxidant systems which can be detected later, even in childhood, a retrospective study of 36 patients of different ages (born prematurely) suffering from different stages of Retinopathy of Prematurity was carried out.

Ultrastructural investigations in late infantile type of ceroid lipofuscinosis (Jansky-Bielschowsky).

Ultrastructural findings of biopsy materials of four gipsy first cousin infants suffering from late infantile type of ceroid lipofuscinosis (Jansky-Bielschowsky) were investigated. The diagnostic significance of the conjunctival biopsy is emphasized. The pericytes and the vascular smooth muscle cells of the arterioles proved to be the main inclusion storing cells.