Pediatric and Teen CL Care

Marfan’s and Pediatric Patients

By Christine W. Sindt, OD, FAAO

Marfan’s syndrome is an autosomal dominant, multisystem, connective tissue disorder, with primary involvement of the ocular, cardiovascular, and skeletal systems. Children who have Marfan’s will often present for management of high myopia, astigmatism, and ectopia lentis leading to aphakic-type corrections.

Marfan’s can be obvious or barely perceptible. Identification of the molecular genetics and increasing availability of molecular diagnosis allow recognition of Marfan’s in patients with incomplete phenotypes.

Phenotypically, children may have an enophthalmic appearance due to diminished or absent retrobulbar fat. Corneal diameter is increased, with diameters up to 13mm, without evidence of glaucoma. They may also have the appearance of arachnodactyly, tall stature, and scoliosis.

Young children who have Marfan’s generally have visual acuity of 20/40 or better when the refractive error is managed properly. Frequently there is high refractive error >±15D with astigmatism up to 7D.

Figure 1. B scan of Marfan’s patient with retinal detachment and posteriorly dislocated lens.

Ectopia lentis is the most common ocular abnormality in Marfan’s in which the lens is displaced, and the ciliary zonular filaments are stretched or discontinuous with disrupted microfibril bundles seen on transmission electron microscopy. Lenses tend to be bilaterally dislocated upward. Intraocular pressure is significantly lower in Marfan’s eyes with ectopia lentis than in those without ectopia lentis. High corneal astigmatism is also associated with subluxed lenses.

Keratometry values of Marfan’s patients are significantly flatter compared to age-matched norms, averaging around 42.00D but often below 40.00D. Keratoconus is not associated with Marfan’s syndrome, yet most eyes will have pachymetry values around or less than 500 microns.

Marfan’s and Contact Lens Wear

Fitting contact lenses on Marfan’s children can be complex both optically and with the physical fit. High refractive error and/or significant cylinder limit the availability of lenses, frequently requiring custom-made soft or GP contact lens designs. The flat nature of the cornea will induce lens lag, which will often not pick up with the blink. To overcome this, I fit Marfan’s children with relatively large GP lenses (1mm smaller than the white to white corneal diameter), and when possible correct through the aphakic optics, which often yields better visual acuity.

Figure 2. Superiorly subluxed lens in Marfan’s patient. Note flattened lens edge in area of missing zonules.

Children who have Marfan’s must be monitored for further lens dislocation, retinal detachments, and glaucoma. Prompt and accurate management of refractive error is important to prevent development of amblyopia. CLS