A 13-year-old girl was referred to us for bilateral congenital glaucoma since infancy. Her paternal great grandparents were cousins. One sister of her paternal great grandmother was reportedly blind during childhood. The girl also showed corneal opacity, high myopia, retinal detachment and horizontal nystagmus. Systematically, there were micrognathia, high palate, malocclusion and funnel chest which had become more conspicuous with advance of age. These features led to the diagnosis of Pierre-Robin syndrome. The intraocular pressure became normalized after repeated trabeculectomy for both eyes. This case illustrates that multiple ocular lesions existing from birth may be a manifestation of systemic anomaly which becomes apparent later in life.
|ジャーナル||Japanese Journal of Clinical Ophthalmology|
|出版ステータス||Published - 12月 1 1996|
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