Presence of bilateral limbal dermoids and choroidal osteomas in a family with inherited limbal dermoids.
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.
Istituto di Oftalmologia, Università degli Studi di Napoli 'Federico II', Naples, Italy.
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A
Magli
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R
De Marco
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L
Capasso
D000293:Adolescent; D002830:Choroid Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D003884:Dermoid Cyst / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D004596:Electroretinography; D005134:Eye Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D010016:Osteoma / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography