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Isolated ectopia lentis is a rare disorder in which no underlying cause for lens subluxation can be found, and it remains primarily a clinical diagnosis. Patients with this disorder may have a variety of ocular complaints, most commonly decreased vision due to lens subluxation. Matrix metalloproteinases (MMPs) are proteolytic enzymes important in physiologic and pathologic connective tissue remodeling. Proteolytic activity is stringently controlled by a family of natural antagonists, the tissue inhibitors of metalloproteinases (TIMPs). The MMPs and TIMPs are present in the aqueous humor in normal eyes and may interact with the lens zonules. We describe a patient with lens subluxation associated with positive MMP expression and no demonstrable TIMP immunoreactivity within the lens. To our knowledge, this is the first report of MMP activity, which we postulate leads to isolated ectopia lentis. Understanding the role of these proteases may lead to novel therapies to reduce the progressive nature of lens subluxation affecting the other eye.

Isolated Ectopia Lentis: Potential Role of Matrix Metalloproteinasesin Fibrillin Degradation