[Vitreous hemorrhage in a neonate with galactosemia. A case report]. / Hémorragie intra-vitréenne du nouveau-né et galactosémie. A propos d'un cas.

Galactosemia is an inherited metabolic disorder due to a defect in one of the three enzymes required to fully metabolize the galactose in glucose: the galactose 1-phosphate uridyltransferase. Because this enzyme is present in the normal foetal liver since the tenth week of gestation, its defect cause congenital abnormality due to galactose accumulation, when the mother had taken milk during the pregnancy. It is mainly a liver pathology whereas the foetal cataract is rare. This latter is usually considered as the sole ophthalmic consequence of this disorder but exceptional ocular haemorrhages have also been described. We report the case of a neonate with galactosemia free from foetal cataract but presenting an unilateral vitreous haemorrhage. Retinal anomalies seen after vitrectomy are probably the source of the vitreous blood favoured by the coagulopathy associated with the neonatal disease. The causes of infant vitreous haemorrhages are often debated and their complications, especially severe amblyopia, require vitrectomy within the month following their discovery. In galactosemia, vitreous haemorrhage can be prevented by an early diagnosis and an appropriate treatment of the liver pathology.

Surgical and prosthetic treatment for microphthalmia syndromes.

Our aim was to evaluate the long-term outcomes of prosthetic treatment and orbital expansion in the management of microphthalmia syndromes. We did a retrospective single-centre study of all cases of microphthalmia treated between 1989 and 2010. The patients were divided into three groups: isolated microphthalmia, microphthalmia associated with micro-orbitism, and complex microphthalmia syndrome. To evaluate the results a score was computed for each patient by assessing the length of the palpebral fissure, the depth of the conjunctival fornix, and local complications together with an evaluation of the satisfaction of patients and their families. Forty-four children were included (27 boys and 17 girls). Twenty-seven had unilateral microphthalmia (61%) and 17 bilateral microphthalmia (39%). Twelve patients were lost to follow up. The mean duration of follow-up was 12 years (range 4-21). Management involved an ocular conformer in only 31 patients (71%). The treatment was deemed satisfactory in all except 10 children. Surgical treatment with orbital expansion permitted good symmetry of the orbital cavities with a final mean difference of 9% (range 3-17) compared with the initial 16.8% (range 13.6-20.3). The prosthetic treatment gives satisfactory results. Despite limited indications and difficult follow-up, our experience emphasises the value of surgical treatment for severe micro-orbitism.