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• W2126695411 abstract "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. 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." @default.
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• W2126695411 date "1997-03-01" @default.
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• W2126695411 title "Ocular Manifestations of the Organoid Nevus Syndrome" @default.
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• W2126695411 doi "https://doi.org/10.1016/s0161-6420(97)30276-0" @default.
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