[Ocular findings associated with meningomyelocele in two brothers with gaucher's disease]

ABSTRACT

To describe the variability of ocular and systemic findings in two brothers with Gaucher's disease. Ophthalmic, general clinical evaluation and enzymatic studies were performed in two brothers, 14 and 7 years old with Gaucher's disease. Mental retardation, occipital meningomyelocele and Gaucher cells in bone marrow in addition to high myopia and various fundus abnormalities consisting of granular white lesions in the fundus periphery were noted. In the older brother, splenomegaly and anemia, macular coloboma -like anomaly in the right eye and night blindness were additional findings. There are various ocular findings including fundus changes and high myopia in Gaucher's disease