OPH2 Ectopia lentis. (Ophthalmology).

OPH2 ECTOPIA LENTIS. Joseph H. Sugg, MD. Chattanooga, Tenn.

Ectopia lentis, a condition in which the crystalline lens of the eye is dislocated from its normal anatomical position, may be associated with a variety of ocular and/or systemic diseases. In this paper, we present a case of an anteriorly dislocated lens. A 36-year-old white female presented to the ED with complaint of sudden onset of severely decreased vision in the right eye. The patient denied all other visual/ocular symptoms, and had no significant medical history, other than having been informed as a youth that she had an eye problem. Physical exam revealed a calm, thin female having only light perception vision from the right eye. There was a 7 mm x 7 mm round, gray, opaque mass, consistent with a cataractous lens, in the anterior chamber of the right eye. It did not make contact with the iris or the corneal endothelium. Intraocular pressure was within normal limits. The left eye, which was aphakic, possessed good vision with contact lens correction. No other ocular abnormalities were noted. The patient was taken to the OR, where the lens was surgically removed from the right eye, and a synthetic lens implant was placed in the anterior chamber. The patient did not follow-up postoperatively. Ectopia lentis can occur in many systemic and/or ocular conditions. Simple ectopia lentis, a bilateral, symmetric dislocation of the lens generally occurring in mid-life, can be found in isolation or associated with glaucoma. Marfan syndrome is a systemic connective tissue disorder resulting from a defective fibrillin gene on chromosome 15 that may initially present with a visual complaint secondary to ectopia lentis. This syndrome has many systemic complications, including joint and cardiac abnormalities. Homocystinuria, a disease of methionine metabolism, is also associated with a high incidence lens dislocation (commonly anterior displacement), as well as thromboembolic disorders and mental retardation. Patients with this condition are tall, with arachnodactyly, a malar flush, and fair hair. Patients with normal intel ligence, yet manifesting symptoms of this condition, have been reported. Weill-Marchesani syndrome is an autosomal recessive disorder, commonly associated with anteriorly dislocated lenses, brachymorphy, brachydactyly, and normal mental status. Hyperlysinemia, sulfite oxidase deficiency, xanthine oxidase deficiency, and Ehlers-Danlos syndrome are other conditions in which ectopia lentis may also be seen in association with a variety of systemic abnormalities. The patient described here carries no formal diagnosis of any specific ocular and/or systemic disease. In view of the many systemic and/or ocular associations with ectopia lentis, it is important for all patients who have this condition to be worked up for the appropriate above-mentioned diseases. If Marfan syndrome is suspected, a detailed family history and a cardiac work-up, including echocardiogram, should be performed. When homocystinuria is a possibility, a cyanide-nitroprusside test for urine disulfides should be done. For the many other disorders associated with ectopia lentis, there are a variety of diagnostic tests available that should be performed in conjunction with a complete history and physical exam.