A 30-year-old male with legal blindness since childhood, affiliated with the ONCE, who came to the clinic diagnosed with intraocular tumor.
There was no evidence of neurofibromatosis.
He had had cataract surgery in both eyes and left eye glaucoma (LE) for 10 years.
Visual acuity was measured in the right eye and amaurosis in the left eye.
He had pendular nystagmus.
In the study of the anterior segment, a coloboma of iris, pseudophakia and in the left eye secclusion and pupillary blister of trabeculectomy stand out in the right eye.
Intraocular pressure was 14 in the RE and 45 mmHg in the LE.
At the bottom of the eye, a coloboma of the retina and optic nerve (NO) was observed in the RE; it was not possible to visualize bottom in the LE, ultrasound showed a temporal detachment.
An MRI was requested, which was reported as an increase in the diameter of the eyeball of the RE 32 x 26 mm and dilation of the NO exit; in the left eye this was a 23 x 22 mm thick cystic lesion was also detected.
With the suspicion of an intraocular tumor and NO, enucleation was performed, which required a lateral orbitotomy.
Microscopically, an ocular globe was observed, presenting a greyish tumor of soft consistency and thickened NO in one of its poles.
The pathological study describes a proliferation inside the globe and below the retina formed by cells elongated with ovoid nuclei and fibrous stroma with thick-walled vessels, abundant glial fibers, Rosen fibers.
An image of similar morphology with cystic changes and calcifications in the optical filet was also found.
Immunohistochemistry was positive for S100, neuronal specific enolase, vimentin and GFAP, Ki67 was positive in a low proportion.
