August 6, 2010
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.

With allergy season upon us in full force, many contact lens wearers are experiencing red, itchy watering eyes. The best course of action will depend on the individual and the severity of symptoms.
Prevention has always been the best way to maintain good health. Frequent doctor visits, preventative testing and early intervention has shown to reduce medical problems and in many cases mortality. For years that has been the mantra of the medical profession which has been supported by all the data and research. Why then did we all hear in November of 2009 that it is now being recommended that women start getting mammography’s AFTER the age of 50 instead of 40, get them every two years instead of one and NOT to do self breast exams.
The long term side effects of refractive surgery have been a concern for all patients and doctors alike. When Radial Keratotomy(RK) was being performed; there were many unknowns. Flattening the corneas with radial corneal incisions stretched the endothelial layer decreasing its’ ability to pump water out of the cornea. While most RK surgeons were not worried about the long term corneal hydration, questions did remain as to what would occur years after the procedure.
As the cold wintery weather seeps into our bones, thoughts of warm weather vacations dance in our heads. While packing for these vacations is often a pain in the back side, the final destinations makes it all worth while. These suitcases, which now must pay their own airfare, usually include the required bathing suits, suntan lotions and clothes saved for just such locations that never get out of the closet any other time of years.
Nutritional supplements are ubiquitous and highly recommended for many individuals. Some are more important then others and all can become toxic if over used. One of the most important elements is Zinc.
Color blindness and deficiencies are genetically transferred, and affect the cones in the retina. The treatment to date has been with the use of special contact lenses called X Chrome lenses. These lenses are a deep red color and are worn on the non dominant eye. This lens improves, but not completely, ones’ ability to differentiate colors. It is an aid not a cure.
Clinical studies have shown that carotenoids are very important in maintaining good over all health and ocular health in particular. Zeaxanthin is one of the important carotenoids. It is the pigment that gives many of the fruits and vegetables their brilliant colors. Green leafy vegetables like spinach and kale as well as corn are great sources of this valuable nutrient. The best source of it are Goji berries. While the US dietary recommendation for carotenoids is about 2 mg/ day, there are no specific advisories for Zeaxanthin.
Damage to one’s eye is often permanent and results in poor that can not be improved by any optical means. The development of new optical aids has dramatically impacted a patient’s ability to see after trauma or accidents affecting the eye. One such change has been small telescopes that can enlarge the image onto a damaged retina, or move an image to a better or more sensitive part of the retinal tissue.
Toxicologist John Draize, 65 years ago, invented the “rabbit test” as a standard for measuring eye damage when exposed to chemical agents. The rabbits are held in a brace preventing them from moving their bodies or heads for 21 days or longer after the chemical has been introduced into their eyes. The eyes are then evaluated for redness, corneal damage, structural changes and alterations in the anterior section of the eyes. The animals are then useless to the researchers since the eyes have been compromised.