Astrocytic Hamartoma of the Retina Not Associated with Tuberous Sclerosis

Retinal Phakomata Associated with Cerebral Astrocytoma

“…In tuberous sclerosis the classic triad of signs consists of adenoma sebaceum, seizures and mental deficiency [1,4], All of these clas sic signs were absent in our patient. Further more, no other cutaneous or systemic signs of tuberous sclerosis, apart from subependymal astrocytoma, were found.…”

“…The minor criteria include seizures, retinal hamartoma ta, ash leaf spots, chagrin patch, renal hamar toma and cardiac rhabdomyoma. Some other investigators think that the presence of astro cytic hamartoma of the retina can be sufficient to establish a diagnosis of tuberous sclerosis in the absence of other visible signs [4], Cases of Bournevill-Pringle disease with only ocular and skin involvement have been described [3,9].…”

“…Other skin lesions include achromatic naevi ('ash leaf spots'), fibromatous infiltration ('chagrin patch') or subungual fibroma [3]. Mental re tardation or neurological changes in this dis ease can be due to tuber-shaped areas of scle rosis of the cerebral convolutions or benign astrocytomata of the periventricular region [3], Malignant astrocytoma of the brain has also been described in tuberous sclerosis [3], Rhabdomyoma of the heart or renal hamarto ma are often not diagnosed until an autopsy is performed [4].…”

Solitary Astrocytic Hamartoma Simulating Retinoblastoma

“…However, it differs in not showing the distinctive stratification, and in contain ing areas of plumper, eosinophilic cells sug gestive of protoplasmic astrocytes. Such cells and, to a lesser extent, cells resembling ganglion cells or multinucleate giant cells, are very common in both reactive [22] and neoplastic [6][7][8][10][11][12] astrocytic prolifera tions.…”

“…The remainder were considered to be astrocytic proliferations and they were all circumscribed lesions formed chiefly by well-differentiated astrocytes [6][7][8][9][10][11][12][13][14][15], the majority being situated on, or contiguous with, the optic nerve head. There is another case [16] which is referred to by Reeser et al [11] as similar to their own, and a report [17] of glial tissue filling a congenitally abnormal eye which is claimed to represent an astro cytoma, but is better classified as massive gliosis. The tumour described by Rosa [18], although referred to as a retinal glioma, is illustrated as lying deep to the ciliary epithe lium and is not an astrocytic tumour histo logically.…”