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Presence of bilateral limbal dermoids and choroidal osteomas in a family with inherited limbal dermoids.

作者信息

Magli A, De Marco R, Capasso L

机构信息

Istituto di Oftalmologia, Università degli Studi di Napoli 'Federico II', Naples, Italy.

出版信息

Ophthalmic Genet. 1999 Jun;20(2):101-6. doi: 10.1076/opge.20.2.101.2288.

DOI:10.1076/opge.20.2.101.2288
PMID:10420195
Abstract

We report a case of bilateral limbal dermoids and bilateral choroidal osteomas in a 14-year-old girl with no extraocular anomalies. Histopathological examination of a limbal lesion confirmed the clinical diagnosis of dermoid. Computerized tomography and ultrasonography were compatible with a diagnosis of choroidal osteoma. Limbal dermoids were present in the patient's mother, in a brother with Down syndrome, and in an aunt with no choroidal osteoma. The present pedigree is compatible with autosomal dominant inheritance of bilateral limbal dermoids. The same gene may be involved in the pathogenesis of ocular choristomas in same patients.

摘要

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