Retinoblastoma, microphthalmia, coloboma, and neuroepithelioma of the pineal body.
A one-month-old infant boy was examined early in life because his mother had bilateral retinoblastoma and his father had bilateral microphthalmia. The ophthalmologist found his right eye was normal size with a coloboma of the iris, choroid, and retina. The left eye was microphthalmic with a coloboma of the uveal tract and retina. A vascularized fluffy white mass in the posterior pole was diagnosed clinically as a retinoblastoma. The tumor regressed with radiation. When the patient was four years of age, a large tumor was found in the region of the pineal recess, causing hydrocephalus and seizures. A biopsy showed an undifferentiated malignant neuroepithelial neoplasm. The patient died within three months of diffuse central nervous system tumor. The unusual findings of a retinoblastoma in a microphthalmic eye with bilateral colobomas and a neuroepithelial neoplasm of the pineal gland are discussed.
Mauger
T F
TF
Ohio State University, Department of Ophthalmology, Columbus.
Makley
T A
TA
Davidorf
F H
FH
Rogers
G L
GL
D000015:Abnormalities, Multiple; D001932:Brain Neoplasms / Q000473:pathology; D002829:Choroid / Q000473:pathology; D003103:Coloboma / Q000473:pathology; D005134:Eye Neoplasms / Q000473:pathology; D006801:Humans; D007223:Infant; D007498:Iris / Q000002:abnormalities; D008297:Male; D008850:Microphthalmos / Q000473:pathology; D009378:Neoplasms, Multiple Primary; D018241:Neuroectodermal Tumors, Primitive, Peripheral / Q000473:pathology; D010870:Pineal Gland / Q000473:pathology; D012160:Retina / Q000002:abnormalities; D012175:Retinoblastoma / Q000473:pathology