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Abstract #61662 Published in IGR 17-1
Optical Coherence Tomography in an Infant with Walker-Warburg Syndrome
Mano N; Mitsutsuji T; Yoshikawa Y; Miyamoto M; Watanabe H; Shimizu K; Miki M; Mimura M; Ueki M; Ikeda TCase Reports in Ophthalmology 2015; 6: 210-215
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.
Department of Ophthalmology, Takatsuki Hospital, Takatsuki City, Japan.
Full articleClassification:
9.1.1 Congenital glaucoma, Buphthalmos (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)
6.9.2.2 Posterior (Part of: 6 Clinical examination methods > 6.9 Computerized image analysis > 6.9.2 Optical coherence tomography)
