Ocular findings in I-cell disease (mucolipidosis type II)

The ultrastructural study of the eyes in seven patients affected with I-cell disease (mucolipidosis type II) revealed important changes in the corneal, scleral, and uveal fibroblasts, while other cells were rarely involved. This explains the inconstant corneal clouding and the absence of ophthalmoscopic abnormalities clinically. At any moment of a patient's life, conjunctival biopsy specimens show characteristic alterations and allow the rapid and secure diagnosis of I-cell disease. This examination should be widely used in the screening of lysosomal diseases.