Ophthalmic features of the organoid nevus syndrome

The organoid nevus (sebaceous nevus) syndrome is characterized primarily by cutaneous sebaceous nevus, seizures, and epibulbar choristomas. On the basis of ophthalmoscopic and computed tomographic studies, a yellow fundus lesion recently observed in this syndrome has been called a coloboma by some investigators and a choroidal osteoma by others. This study was undertaken to review our 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.

We reviewed the records of patients with the organoid nevus syndrome who were personally evaluated by the investigators. The ocular findings were studied in more detail, with emphasis on the epibulbar and fundus lesions.

We identified five patients with the organoid nevus syndrome. Four had a classic sebaceous nevus in the facial and scalp area, and 2 had seizures and arachnoid cysts. All 5 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 4 patients with clear ocular media, was a flat yellow discoloration of the posterior fundus, of variable size and shape, which appeared to correlate with a dense plaque noted on ultrasonography and computed tomography. In 1 case, histopathologic examination showed that this posterior lesion contained intrascleral cartilage.

Our observations and a review of the literature indicated that the organoid nevus syndrome has varied manifestations. 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.