Optical Coherence Tomography in an Infant with Walker-Warburg Syndrome

Purpose: Walker-Warburg syndrome (WWS) is a type of congenital muscular dystrophy (CMD) characterised by severe brain malformation, lissencephaly, and congenital eye abnormalities. Despite the coexistence of various eye abnormalities, results from optical coherence tomography (OCT) in WWS have not previously been reported. We herein report specific OCT findings in an infant with WWS. Patients and Methods: The patient was a 14-day-old boy delivered by caesarean section at 38 weeks and 4 days of gestation and with a birth weight of 2,543 g. A cranial MRI showed lissencephaly, hydrocephalus, an encephalocele, and cerebellar hypoplasia, consistent with the diagnosis of WWS. Results: A bilateral ocular examination showed no abnormalities of the anterior eye segment. A fundus examination showed a persistent hyaloid artery in the vitreous cavity, a widespread loss of fundus pigmentation, transparent choroidal vessels (some choroidal vessel sections were visible), and the absence of a distinct macular reflex. OCT showed no foveal pit and an indistinct laminar structure of the retina. The infant subsequently developed congenital glaucoma and he then died of respiratory failure at the age of 8 months. Conclusions: WWS is associated with a high incidence of congenital eye abnormalities, and this infant showed findings consistent with WWS. OCT revealed a marked retinal dysplasia.

Fundus Pigmentation in Retinopathy of Prematurity

Objective. A prospective study design was used to investigate the association between different degrees of fundus pigmentation and the incidence of retinopathy of prematurity (ROP) among very low birth weight infants in a large neonatal intensive care unit. Methods. The study group consisted of 161 infants weighing 1500 g or less at birth and included all infants born from 1988 to 1990 who survived at least 10 weeks. Presence or lack of any acute stage ROP was determined by weekly ophthalmological examination from the age of 4 weeks. The degree of fundus pigmentation was recorded for each infant during the first examination. Results. Infants with dark fundus pigmentation were found to be at half the risk of developing ROP as compared with the infants having light/medium fundus pigmentation (relative risk 0.5;95% confidence interval = 0.2-1.1). When controlling for birth weight, gestational age, length of oxygen therapy, and ethnic group in multivariate analysis, dark pigmentation was an independent and statistically significant protective factor (odds ratio = 0.09, 95% confidence interval = 0.02-0.6). None of the infants with Stage III ROP or higher had dark pigmentation. Conclusion. We speculate that large amounts of melanin in the retinal pigment epithelium or choroid may protect the dark-pigmented very low birth weight infant from developing ROP.