EPOS

European Paediatric Ophthalmological Society

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Bilateral leukokoria in a newborn.

Verstraeten Sofie¹, de Ravel Thomy², Spileers Werner¹, Van Calster Joachim¹, Casteels Ingele^1
1Department of Ophthalmology, University Hospitals Leuven, ²Centre for Human Genetics, University Hospitals Leuven

Introduction: Leukokoria in an infant or child is an alarming clinical sign. Parents have glimpsed an unusual appearance of the eye, depending on the source of illumination. Referral and investigation in these children are to be carried out urgently. Retinoblastoma is the first diagnosis to be excluded; many other underlying causes have been described. Methods: We describe the case of a 5 week old boy presenting with bilateral leukokoria. He is the first child born to healthy non-consanguineous parents after a normal pregnancy and delivery. A complete ophthalmological examination with additional B-scan ultrasonography was performed. We also referred the patient for a neuropediatric investigation, Computer Tomography (CT) and Magnetic Resonance Imaging (MRI) of the brain. A blood sample for DNA-analysis was taken for genetic mutation analysis of the retinoblastoma and Norrie disease (pseudoglioma) genes. Results: Ophthalmological examination showed a fixed non-reactive pupil, a clear cornea with normal diameter, a narrow anterior chamber, an atrophic mydriatic iris with synechiae, a clear lens and a retrolenticular membrane comprising of dysplastic retina with exudates and haemorrhages. The intraocular pressure was 20 and 26 mm Hg in the right and left eye respectively. On B-scan ultrasonography a closed funnel retinal detachment was seen; there were no calcifications. Clinical neuropediatric and hearing investigation were normal. CT and MRI examination showed a bilateral retinal detachment, a focal retrolenticular mass and contrast captation of the optic nerves. There were no other cranial abnormalities. The diagnosis of retinal dysplasia was postulated. Conclusion: Leukokoria is an alarming sign in an infant or child. A complete investigation is urgent. The differential diagnosis in our patient includes: Norrie disease, Osteoporosis-pseudoglioma syndrome, Walker-Warburg syndrome, incontinentia pigmenti and bilateral severe familial exudative vitreoretinopathy.