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August 1972

Heterotopic Adipose Tissue and Smooth Muscle in the Optic Disc: Association With Isolated Colobomas

Author Affiliations

Washington, DC
From the Registry of Ophthalmic Pathology, Armed Forces Institute of Pathology, Washington, DC. Dr. Willis is now with the Department of Ophthalmology, University of Western Ontario, London, Canada. Dr. O'Grady is now with the Department of Ophthalmology, Northwestern University Medical School, Chicago. Dr. Smith is now with the Department of Ophthalmology, the Albany Medical College, Albany, NY. Dr. Crawford is now with the Department of Ophthalmology, University of California Medical Center, San Francisco.

Arch Ophthalmol. 1972;88(2):139-146. doi:10.1001/archopht.1972.01000030141003

The clinical and histopathologic features of a poorly recognized malformation of the optic disc are described. Typically, the otherwise asymptomatic patient has a blind eye requiring enucleation either because of pain from secondary glaucoma or for cosmetic reasons. An atypical clinical presentation occurs in more than one quarter of the cases when enucleation is undertaken for suspected intraocular tumor. The distal region of the optic nerve is externally enlarged, corresponding to a localized colobomatous defect in the optic disc. Microscopically, striking lipomatosis of the leptomeninges of the distal optic nerve, combined with heterotopic smooth muscle in the peripapillary sclera and choroid, is seen in the region of the coloboma at the disc. Infrequently the colobomatous defect is more extensive, involving the sclera, choroid, and retina well away from the disc.