An eye disorder known as Peters anomaly has been known since the early part of the last century when a German ophthalmologist named Albert Peters first reported it. It usually occurs in only one eye. More recently, we have learned that when it occurs in both eyes this condition can also be associated with other syndromes.
The eye condition known as Peters anomaly consists of incomplete formation of the front part of the eye. In particular, the iris (the colored part of the eye) may be attached to the cornea (the clear part, or windshield of the eye) and this often leads to swelling of the cornea causing it to look cloudy and, of course, interfering with vision. There is considerable variation in the amount of eye damage. In some patients cutting the iris adhesions may be enough to allow some clearing of the corneal clouding. Sometimes the lens of the eye is attached as well and this can cause a cataract. However, in many cases, the underlying defect leads to glaucoma which may be difficult to treat.
In Peters-plus syndrome, in addition to the eye malformations, there may be some growth and developmental delays, short stature, short digits, cleft lip and/or palate, heart defects, and even malformations of the genitalia and the urinary system. Some degree of intellectual deficit is common. The face is said to be distinctive with a high forehead, narrow eyelid openings, round facies, and an upper lip that appears like a Cupid’s bow. The ears may be low-set and prominent and the neck is often broad.
Peters-plus syndrome is caused by a defect in a gene called B3GALTL that is located on chromosome 13. It is an autosomal recessive disorder meaning that it requires a mutation on both chromosome 13’s, one inherited from each of the parents, before the disease appears. The parents who each carry one mutation have no clinical disease but each of their children has a 25% chance of inheriting both mutations.
The diagnosis can be made by your eye doctor working with pediatricians and neurologists. There is much variability in the disease manifestations and therefore the prognosis is highly variable as well. No cure is available but treatment of the affected organs can be beneficial. The iris adhesions, if removed from the cornea, can lead to some clearing of the cloudiness but in other cases a corneal transplant is required. If a cataract is present, this can be surgically removed. The most difficult eye problem to treat is glaucoma and generally a pediatric glaucoma expert is the best specialist for this.