Article

PEDIATRIC AND TEEN CL CARE

MANAGING MARFAN SYNDROME

Marfan syndrome is classified as a heritable disorder of connective tissue. It is characterized by systemic and ocular features that result from mutations in the fibrillin gene. Systemic features include thin, long fingers and toes, relaxation of ligaments, muscular underdevelopment, abnormalities of the heart, and a high, arched palate (Nemet et al, 2006).

Ocular features include bilateral subluxation of the crystalline lens (ectopia lentis), axial myopia, astigmatism, glaucoma, flat cornea, and retinal detachment. In Marfan syndrome, subluxation of the lens produces astigmatism that is not at the same meridian as the corneal astigmatism. Also, high degrees of astigmatism occur as a result of the tilted edge of the subluxated lens. Consequently, these patients have some degree of residual astigmatism that is oblique with respect to the principal meridians of the cornea (Yeung and Weissman, 1997; Lindsay et al, 2017).

Cataracts frequently develop in the subluxated lenses. Surgical extraction of the cataracts becomes necessary when vision is significantly degraded. In many cases, children are left aphakic after surgery due to the complexity of intraocular lens implantation. Optical corrective measures such as specialty contact lenses in combination with glasses are needed to manage the high refractive errors of children affected by Marfan syndrome (Neely and Plager, 2001).

A Case of High Myopia

Take for example the case of a 9-year-old Hispanic female who had a history of Marfan syndrome and presented for a contact lens evaluation to manage her high myopia, astigmatism, and anisometropia. The patient’s ocular manifestations of Marfan syndrome included bilateral cataract, ectopia lentis, and high axial myopia in both eyes. Her manifest prescription was –16.00 –2.50 x 158 in the right eye and –19.00 –1.25 x 142 in the left eye, which resulted in 20/80 and 20/60 in each eye, respectively (Figure 1).

Figure 1. Marfan syndrome can cause high myopia, astigmatism, and anisometropia.

She was fitted into high-minus soft contact lenses and was corrected to 20/30 in both eyes (Figure 2). This young patient was very happy with her improved vision quality and her new cosmetic appearance without her spectacles (Figure 3).

Figure 2. The high refractive error can be corrected with soft contact lenses.

Figure 3. Soft lenses can improve the cosmetic appearance and visual quality in children who have Marfan syndrome.

A Specialty Lens Approach

Children affected with Marfan syndrome have high myopia and astigmatism. Ectopia lentis can cause increased amounts of internal oblique astigmatism and may even result in visually significant cataracts that need to be removed. In spite of these challenges, the resultant high refractive errors in children who have Marfan syndrome can be managed successfully through the use of specialty contact lenses. CLS

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