The reticuloendothelioses (lipidoses) characteristically associated with retinal involvement are Tay-Sachs disease, Niemann-Pick disease, and metachromatic leukoencephalopathy. The patient to be reported in this paper had clinical signs suggestive of the adult form of Gaucher's disease and pathochemical signs suggestive of Niemann-Pick disease. The abnormalities in the fundi are thought to be unlike those reported in any other form of reticuloendotheliosis.
Report of Case
The patient was a 24-year-old woman, who had been known to have hepatosplenomegaly since childhood. She had been diagnosed at the age of 12 years as having Gaucher's disease. The present hospital admission was for consideration of splenectomy to prevent complications of pregnancy.At the age of 6 she had bled so profusely at the time of a tonsillectomy that she was hospitalized for two weeks and (probably) had a transfusion. At the age of 12 the large liver and spleen were noted and a diagnosis was
COGAN DG, FEDERMAN DD. Retinal Involvement With Reticuloendotheliosis of Unclassified Type. Arch Ophthalmol. 1964;71(4):489-491. doi:10.1001/archopht.1964.00970010505009