| Ocular manifestations of the organoid nevus syndrome. | |
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MedLine Citation:
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PMID: 9082288 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: The organoid nevus (sebaceous nevus) syndrome is characterized primarily by cutaneous sebaceous nevus, seizures, and epibulbar choristomas. Based on ophthalmoscopy and computed tomography (CT), a yellow fundus lesion recently observed in this syndrome has been called a coloboma by some authors or a choroidal osteoma by others. This study was undertaken to review the authors' personal experience with the organoid nevus syndrome, to review the English language literature on the subject, and to address some misconceptions regarding its ocular manifestations. METHODS: The authors reviewed the records of patients with the organoid nevus syndrome who were personally evaluated by the authors. The ocular findings were studied in more detail, with emphasis on the epibulbar and fundus lesions. RESULTS: The authors identified five patients with the organoid nevus syndrome. Four had a classic sebaceous nevus in the facial and scalp area and two had seizures and arachnoid cysts. All five patients had an epibulbar tumor, which proved to be a complex choristoma in one case that was studied histopathologically. A characteristic ophthalmoscopic feature, observed in the four patients with clear ocular media, was a flat, yellow discoloration of the posterior fundus, of variable size and shape, that appeared to correlate with a dense plaque noted on ultrasonography and CT. In one case, histopathologic studies showed that this posterior lesion contained intrascleral cartilage. CONCLUSIONS: The authors' observations and a review of the literature indicated that the organoid nevus syndrome has varied manifestations. Just like the closely related phakomatoses, it often occurs as a forme fruste, without full expression of the syndrome. The most important ocular manifestations are an epibulbar mass, compatible with a complex choristoma, and focal, yellow discoloration in the fundus, probably related to intrascleral cartilage. |
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Authors:
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J A Shields; C L Shields; R C Eagle; J F Arevalo; P DePotter |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Ophthalmology Volume: 104 ISSN: 0161-6420 ISO Abbreviation: Ophthalmology Publication Date: 1997 Mar |
Date Detail:
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Created Date: 1997-04-01 Completed Date: 1997-04-01 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7802443 Medline TA: Ophthalmology Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 549-57 Citation Subset: IM |
Affiliation:
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Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA 19107, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Arachnoid Cysts / complications, pathology Cartilage* Child Choristoma / etiology, pathology* Choroid / abnormalities Coloboma / etiology Eye Abnormalities / etiology, pathology* Face / pathology Female Fluorescein Angiography Fundus Oculi Hamartoma / complications, pathology* Humans Infant Male Scalp / pathology Scleral Diseases / etiology, pathology* Seizures / complications, pathology Skin Diseases / complications, pathology* Syndrome Tomography, X-Ray Computed |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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