Blepharoptosis, Myopia, And Ectopia Lentis

Gillum and Anderson (1982) described a family in which a 72-year-old woman and 2 of her daughters showed blepharoptosis from birth, high grade myopia, and ectopia lentis, present in one of the daughters since at least age 4 years. The globes were abnormally long. The affected women showed abnormally high upper eyelid creases and good levator function--a combination indicative of levator aponeurosis disinsertion. The authors suggested that a connective tissue defect of sclera, zonules and levator aponeurosis was the common factor underlying the clinical features. The mother was 1 of 16 children of presumably unaffected parents and may have represented a new mutation.