TY - JOUR
T1 - Ocular manifestations of the organold nevus syndrome
AU - Shields, J. A.
AU - Shields, C. L.
AU - Eagle, Jr
AU - Arevalo, J. F.
AU - DePotter, P.
N1 - Funding Information:
Supported by the Eye Tumor Research Foundation, Philadelphia, Pennsylvania.
Copyright:
Copyright 2018 Elsevier B.V., All rights reserved.
PY - 1997
Y1 - 1997
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0030615233&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0030615233&partnerID=8YFLogxK
U2 - 10.1016/S0161-6420(97)30276-0
DO - 10.1016/S0161-6420(97)30276-0
M3 - Article
C2 - 9082288
AN - SCOPUS:0030615233
SN - 0161-6420
VL - 104
SP - 549
EP - 557
JO - Ophthalmology
JF - Ophthalmology
IS - 3
ER -