Orbital tumor associated with a microphthalmic eye and colobomatous cleft: Pilocytic astrocytoma (glioma) or massive retinal gliosis

Abstract

A 11-year-old boy with congenital microphthalmos of the right eye presented with gradual protrusion of his ocular prosthesis. MRI showed an orbital mass adjacent to the microphthalmic eye. After removal of the eye and the orbital soft tissue mass a gliotic mass, resembling a pilocytic astrocytoma WHO grade 1 (glioma) was diagnosed. Through a colobomatous cleft in the eye the tumour spread in the orbit. There were no clinical signs of neurofibromatosis 1. This case showed a very rare association between a microphthalmic and colobomatous eye and pilocytic astrocytoma, grade 1. However a far advanced and infiltrative massive retinal gliosis cannot be definitively excluded as differential diagnosis.

Massive Retinal Gliosis in Microphthalmic Globe With Cyst Masquerading as a Neoplasm

“…Differentiating features of low-grade astrocytoma include the presence of elongated eosinophilic processes, typically known as Rosenthal fibers (which are less commonly seen in MRG), p53 and BRAF gene mutations, and early involvement of the optic nerve, usually within the first decade of life. Almost one-third of the glioma cases seen may be associated with neurofibromatosis type 1 (NF1) [2,8]. Vasoproliferative tumors (VPT), unlike glial-predominant MRG, demonstrate proliferation of glial as well as vascular components on histopathology.…”