Weill-Marchesani Syndrome And The Eyes

Individuals frequently suffer from symptoms that are a result of disorders that go undiagnosed. This is in large part to the etiology being very obscure or so uncommon that few doctors even look for it or they don’t even know that it exists. While not a good explanation, the reality is that it occurs on a regular basis.

Weill-Marchesani Syndrome is one such condition. It is a connective tissue disorder that can be either Autosomal recessive or Autosomal dominant, but the two types can not be differentiated simply by the clinical symptoms. The most common findings include microspherophakia ( small natural lens of the eye), myopia as a result of the abnormal lens shape, ectopia lentis which is an abnormal lens position usually farther forward in the eye closer to the iris, and glaucoma which is the result of a narrow angle because the lens is pushing up against the iris. In addition, lose and broken zonules which hold the lens in place often cause the lens to fall down or backward into the vitreous. The physical stature of these folks is often short and frequently over heavy.

Molecular genetic testing will confirm the diagnosis and type, but the clinical symptoms should help the treating doctor make a preliminary diagnosis and begin therapy.

Treatment of these patients depends on the clinical findings. When the natural lens becomes ectopic it must be removed to decrease the likelihood of pupillary block and secondary glaucoma. In addition, peripheral iridectomies should also be preformed as well as trabeculectomies to prevent future angle closures. These procedures are extremely important because of a paradoxical response to miotics and mydriatics.

Systemic findings often include stiff joints, poor dental alignment and maxillary hypoplasia. These conditions may complicate air passage during anesthesia.

These patients do well when properly diagnosed and treated as well as being closely monitored periodically. Special design contact lenses are often employed to maximize their visual acuity due to large refractive differences between the eyes.