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January 2013

Rhegmatogenous Retinal Detachment and Bilateral Optic Disc Coloboma in Organoid Nevus Syndrome

Author Affiliations

Author Affiliations: Retina Division, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, and Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia (Dr J. F. Arevalo); Retina and Vitreous Service, Clinica Oftalmologica Centro Caracas, Caracas, Venezuela (Dr Lasave and Mr F. A. Arevalo); and Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania (Dr Shields).

JAMA Ophthalmol. 2013;131(1):111-113. doi:10.1001/jamaophthalmol.2013.573

Organoid nevus syndrome is characterized by cutaneous sebaceous nevus (nevus sebaceous of Jadassohn), seizures, mental retardation, epibulbar choristomas, and occasionally other systemic abnormalities.1,2 The lesion occurs most often on the scalp and retroauricular area and occasionally on the neck and trunk.3 Organoid nevus syndrome shares similarities with oculoneurocutaneous syndromes, or phakomatoses, and has been also called the linear nevus sebaceous syndrome.1,2 Ocular manifestations are present in up to 50% of patients and include epibulbar choristoma, posterior scleral cartilage, and coloboma of the eyelid, iris, ciliary body, retina, and optic disc.1,2

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