Association of Retinoblastoma with Mental Defect and Other Pathological Manifestations* By

THIS paper describes an interesting association of retinoblastoma with mental defect, on some occasions further complicated by other pathological manifestations, especially in the central nervous system. As is well known, an association between abnormalities of this system and the eye, particularly the retina, occurs in many different pathological conditions, and there is very often an abnormal metabolic and genetic background. The association of ocular pathological conditions with mental defect is also well established, and may constitute part of the cinicat picture in various diseases, as, for instance, in the cerebro-retinal degenerations of different types, the heredo-familial macular degenerations, the primary degenerations of the visual retinal cells and the phakomatoses, wherein the incidence of mental defect appears to be fairly high. According to Davenport (1918) this is 8 per cent. in neurofibromatosis. It is likely that the association of pathological conditions in the eye with primary mental defect arises from an involvement of the nervous tissue through associated genetic defects, a concept implying the potential existence of an infinite variety of associated neuropathological manifestations, and it is conceivable that in such a way malignant neoplastic growth in the neural retinal tissue may be associated with developmental abnormalites or precocious degenerative changes in the central nervous system. This is shown by a number of cases observed during a clinicopathological study of retinoblastoma carried out at the Institute of Ophthalmology.