Ophthalmic features of the organoid nevus syndrome

Abstract

Background/Purpose: 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.

Gross, histologic, and computed tomographic characterization of nonpathological intrascleral cartilage and bone in the domestic goat (Capra aegagrus hircus)

“…In the present study, scleral cartilage and bone were typically located adjacent and often dorsal to or surrounding the optic nerve head. This is similar to the position in which bone is described in the eyes of albino rats exposed to chronic stress, and in humans with organoid nevus syndrome, but not in humans with phthisical globes . The position of bone we discovered in goats is also remarkably similar to the os opticus, which has been described in 219 avian species from 35 families and nine orders .…”

“…Although bone, cartilage, or both occur as normal tissues within the sclera of many nonmammalian eyes and have been reported with various induced and spontaneous pathologic conditions in eyes of multiple species, to the authors’ knowledge, the present study is the first to report intrascleral bone development in the normal globe of a mammal of any type, and the first to characterize intrascleral cartilage as a normal finding in any therian. To the authors’ knowledge, there is only one previous report describing intrascleral cartilage in a single Suffolk ewe from the control group of a study looking at the effects of oral inoculation with scrapie .…”

“…To the authors’ knowledge, intrascleral cartilage or bone formation is reported very rarely in mammals that give live birth (therians) and, then, only in various experimental models, pathological conditions and aging in rats, mice grafted with avian retinal pigment epithelium, the organoid nevus syndrome in humans, and in chronically phthisical human globes . Osseous metaplasia is fairly common in nonscleral sites, including the aged canine lung (i.e., pneumoliths), several neoplasms (e.g., canine mixed mammary tumors or feline gastrointestinal adenocarcinomas), and intraocular sites (e.g., the canine uvea or the guinea pig ciliary body) .…”

Conjunctival tumors in children

“…Conjunctival dermoid is a congenital well circumscribed yellow-white solid mass that involves the bulbar or limbal conjunctiva [13][14][15]. It characteristically occurs inferotemporally and often this tumor has fine white hairs (Fig.…”

“…The complex choristoma has an association with the linear nevus sebaceous of Jadassohn [15] (Fig. 4).…”