Biomedical subjects

J Rootman

Publications and source records attributed to J Rootman.

130 records · Page 8Linked to original sources

PubMedDate not supplied

Conjunctival and uveal melanoma in the dysplastic nevus syndrome.

The dysplastic nevus syndrome was conceptualized in the late 1970s, and the subsequent proposal of a genetic relationship with ocular melanoma has stimulated debate in the literature which remains unresolved. We present the case of a 60-year-old man with histologically proven sporadic dysplasic nevus syndrome and a prior history of nine cutaneous melanomas, who developed a large, exophytic melanoma of the cornea and limbal conjunctiva. Cytogenetic analysis of this melanoma revealed a clonal 1;14 translocation. We believe this is the first reported case to use cytogenetic techniques in the analysis of conjunctival melanoma, either associated with dysplastic nevus syndrome or in isolation. We review the clinical literature as well as the cytogenetic and molecular genetic data related to the possible association of cutaneous melanoma, conjunctival and uveal melanoma and the dysplastic nevus syndrome.

Chromosomes, Human, Pair 1↗

PubMedDate not supplied

Nonthyroid causes of extraocular muscle disease.

Extraocular muscle involvement in orbital disease is most frequently seen as a feature of thyroid orbitopathy (Graves' disease). However, a wide range of other conditions may alter the size, shape, and function of these muscles, with characteristic clinical manifestations or abnormalities visible on orbital imaging. The differential diagnosis of muscle disease can be narrowed by careful analysis of clinical features and ancillary tests. Imaging facilitates recognition in many cases, but in some instances, accurate diagnosis requires biopsy. This review highlights the differential diagnoses for diseases of extraocular muscles based on the clinical and investigative records of 103 patients at our institution combined with data from the world literature. We found that the most common nonthyroid causes of muscle disease were inflammatory, vascular, and neoplastic processes (in decreasing order of frequency). Emphasis is placed on investigations that provide a logical approach to, and appropriate management of, disease of the extraocular muscles.

Amyloidosis↗

PubMedDate not supplied

Globe tenting: a sign of increased orbital tension.

Globe tenting is a change in the posterior globe configuration that results in a tented or conical appearance and is objectively defined as a posterior globe angle of less than 130 degrees. Globe tenting is caused by an acute/subacute intraorbital mass effect producing significant proptosis with tethering of the globe by the stretched optic nerve. In this series of 10 patients, globe tenting was produced by subperiosteal abscess (five cases), hemorrhage into a lymphangioma (two cases), a varix (one case), traumatic carotid hemorrhage into a lymphangioma (two cases), a varix (one case), traumatic carotid cavernous fistula (one case), and multiple epithelial implantation cysts (one case). Progressive narrowing of the posterior globe angle correlated with an increase in proptosis and in optic nerve length, as well as with more severe visual impairment. Tenting with a posterior globe angle of 120-130 degrees correlated with mild visual symptoms and a good recovery. A posterior globe angle of less than 120 degrees with acute proptosis constitutes a surgical emergency; a delay in surgical decompression in these patients may prevent complete recovery of visual function. CT is useful in providing good characterization of globe tenting and, thus, in helping to determine the clinical significance of this abnormality.

Adolescent↗

PubMedDate not supplied

Plexiform neurofibromatosis of the orbit: CT evaluation.

Seven patients with orbital plexiform neurofibromas (PNFs) were evaluated by computed tomography (CT). These lesions are pathognomonic of von Recklinghausen disease and manifest a spectrum of radiologic abnormalities ranging from thickening of the eyelid and periorbital soft tissues to enlargement of the bony orbit and extensive infiltration of the orbital soft tissues. In analyzing the CT features of orbital PNF, three findings that have not been previously reported were identified. Increased density of the intraconal fat present in four of seven patients was believed to represent PNF involvement of small intraconal nerves. Three patients demonstrated enhancing, irregularly nodular thickening of the optic nerve sheath complex thought to be caused by PNF of the posterior ciliary nerves surrounding the optic nerve. Three patients with buphthalmos and congenital glaucoma demonstrated thickening and enhancement of the uveal/scleral layer believed to represent PNF of these structures. Involvement of the choroid and sclera, posterior ciliary nerves, and small intraconal nerves has been recognized pathologically but has not been previously identified by CT.

Adolescent↗