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S. Milazzo, V, F. Denimal, A. Bertout, H. Copin, D. Bremond-Gignac; Congenital Duplication of the Lens Placode. Invest. Ophthalmol. Vis. Sci. 2008;49(13):1307.
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The aim was to present a congenital case of anterior segment duplication and analyze the mechanism of the malformation.Case report and
A mature female child born of a full-term pregnancy, presented at birth, a left buphthalmos. A complete ophthalmologic examination was performed under general anesthesia at the day 3. Cytogenetic analysis was performed. A complete pediatric check up was added.
Ophthalmologic examination pointed a double oval cornea fused in the center, and an horizontal duplication of the lens also fused. The fundus found a inferior chorioretinal coloboma. The right eye was normal. Ultrasonography revealed the two different lenses, and a hyaloid artery persistance linked to the center of the optic disc. The left axial length was of 20.1 mm. Pulsed doppler confirmed vascularization. The cytogenetic analysis and the pediatric examination were normal.
We report a rare case of congenital duplication of lens placode. Mechanism of the embryologic malformation was discussed with buds fusion and PAX6 gene. The visual prognosis is very poor. Pediatric check up is normal and the anomaly appears isolated. Even the cytogenetic analysis is normal, the expression of the PAX6 gene is probably involved in this anomaly.
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