A 30-year-old man with legal blindness since childhood, affiliated to the ONCE, who came to the clinic diagnosed with an intraocular tumour. His medical history included hypoacusis; there was no evidence of neurofibromatosis. He had undergone cataract surgery in both eyes and glaucoma in the left eye (OI) 10 years previously. On ophthalmological examination, visual acuity was finger-counting in the right eye (OD) and amaurosis in the OI. He had a pendular nystagmus. In the study of the anterior segment, there was a coloboma of the iris in the right eye, pseudophakia and in the left eye, pupillary seclusion and the bleb of filtration from the previous trabeculectomy. Intraocular pressure was 14 in the OD and 45 mm Hg in the OI. Fundus examination showed a retinal and optic nerve coloboma (NO) in the right eye; fundus imaging was not possible in the left eye, ultrasound showed a retinal detachment and the presence of a mass in the inferior temporal region. An MRI was requested and reported as an increase in the diameter of the eyeball in the OD 32 x 26 mm and dilatation of the exit of the NO; The OI had a size of 23 x 22 mm, and a polypoid lesion was detected in the inferior temporal region of the globe, isointense in T1 and hypointense in T2 with enhancement after contrast, possibly related to amelanotic melanoma, associated with a slight thickening of the covers; in addition there was an extraocular lesion at the exit of the NO cystic, hyperintense in T2 sequence without contrast uptake.
With the suspicion of an intraocular and NW tumour, enucleation was performed, which required lateral orbitotomy. Microscopically, an eyeball was observed with a greyish tumour of soft consistency and thickened NO at one of its poles. The pathology study described a proliferation inside the globe and under the retina formed by enlarged cells with ovoid nuclei and fibrous stroma with thick-walled vessels, abundant glial fibres, Rosenthal fibres and microsquamous areas. An image of similar morphology with cystic changes and calcifications was also found in the optic fillet. Immunohistochemistry was positive for S100, neuronal specific enolase, vimentin and GFAP, Ki67 was low positive.