Marfan's Ocular Features
The main ocular features of Marfan syndrome, all of which can result in decreased vision, include bilateral ectopia lentis (lens dislocation), myopia and retinal detachment . About 50% of patients with Marfan syndrome are diagnosed by an ophthalmologist; some individuals may present with isolated ocular signs suggestive of this syndrome . Recent advances in diagnosis, together with improved surgical techniques for the repair of ocular complications and the application of prophylaxis have contributed to the preservation of sight in Marfan patients . We present here an updated review of the main clinical ocular features of this disorder, their role in the diagnosis of the syndrome, and their management.
In 1991 the fibrillin-1 (FBN1) gene mutation on chromosome 15 was identified as a cause of Marfan syndrome. Fibrillin, a glycoprotein, provides force-bearing structural support and elasticity of the ocular connective tissues. It is found in multiple structures in the eye and plays an integral role in maintaining the integrity of the healthy eye . Owing to locus heterogeneity as well as the large size of the FBN1 gene and the lack of family history in about one-third of the cases, molecular testing is of limited help in diagnosing Marfan syndrome and clinical evaluation remains fundamental to its diagnosis . Clinical diagnosis depends on a combination of major and minor signs, as defined in the revised 1996 Ghent nosology . The existence of ectopia lentis is considered a major criterion for the diagnosis of Marfan syndrome in this nosology, which unequivocally diagnoses or excludes Marfan in 86% of cases . Slit-lamp examination with fully dilated pupil for the detection of ectopia lentis and other ocular abnormalities should be a part of every initial evaluation of Marfan syndrome, and all people with non-traumatic lens dislocation should be referred to a pediatrician or internist, medical geneticist and cardiologist for a complete evaluation and a definitive diagnosis . When there is a family history, initial examination by an ophthalmologist should take place in children at 3 to 6 months of age. To detect later refraction changes such as those caused by childhood lens subluxation, and to prevent amblyopia which can be present in up to 50% of patients , an annual examination by a pediatric ophthalmologist is recommended until age 12.
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