Persistent hyperplastic primary vitreous with retinal tumor in tuberous sclerosis - Report of a case including tumoral immunohistochemistry and cytogenetic analyses

Objective: The authors describe an ocular lesion combining the characterist ics of persistent hyperplastic primary vitreous (PHPV) and a retinal tumor in an infant with tuberous sclerosis complex (TSC), Study Design: Case report, Methods: Immunohistochemistry and cytogenetic studies were performed on TSC cells from an intraocular tumor in a 6-week-old infant. Results: Histopathologic examination showed a thick fibrovascular membrane between the aspect of the lens and the astrocytic component of the mass. Gl ial fibrillary acidic protein (GFAP) showed a variable intracytoplasmic rea ction in the astrocytic proliferation, involving approximately 50% of the c ells. Tissue culture studies showed a fairly rapid proliferation of fusifor m cells, consistent with bipolar astrocytic cells. Cytogenetic studies show ed one abnormal clone consisting of three hyperdiploid cells with a loss of chromosome 9 and a gain of chromosomes 6 and 12. Conclusion: The atypical localization of the retinal tumor could be explain ed by the fact that it was trapped during its proliferation by the retinal detachment associated with the PHPV.