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C. Reiter, G. Gramer, E. Gramer; Riskprofile in Patients With Ectopia Lentis With Marfan-Syndrome or Marfanoid Features. Invest. Ophthalmol. Vis. Sci. 2009;50(13):4354.
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To evaluate in patients with ectopia lentis: 1)Age of the patients at diagnosis, frequency, symmetry and direction of lens dislocation. 2)Frequency of glaucoma (GL) or ocular hypertension (OH) in relation to age at diagnosis. 3)Family history of MFS. 4)Frequency of myopia, retinal detachment, strabism, cardiovascular and skeletal manifestations.
Retrospective analysis of ophthalmologic, paediatric and internal findings in 22 not related, consecutively examined patients with lens dislocation in at least one eye and marfanoid features at the first clinical examination and photo documentation. Age of diagnosis and family history of MFS and GL was requested. For statistics Mann-Whitney Test (two tailed) was used.
1)Mean age at diagnosis in 22 patients (12 male, 10 female) was 29,9±18 years (range 3-64 years). Age distribution at diagnosis: up to 9 years: 13,6%, 10-19: 22,7%, 20-29: 13,6%, 30-39: 18,2%, 40-49: 13,6%, 50-59: 13,6%, 60-69: 4,5%. 20 patients (90,9%) had bilateral lens dislocation. Direction of dislocation was most commonly upwards in 59%, downwards in 13,6%; in 18,1% crystalline lens was luxated into the anterior chamber or vitreous. Patients with upward dislocation were significantly younger at diagnosis than patients with downwards lens dislocation (23,7±17,6 vs. 50,6±15,9 years)(p=0,0436). 2) 45,4% had GL or OH and were significantly older at diagnosis than patients without GL (39,8±15,9 vs. 21,7±15,9 years)(p=0,0178). 3) Family history of MFS was found in 3 patients (13,6%) with 3, 4 or 8 relatives with lens dislocation associated with marfanoid features. 4)At time of diagnosis 40,9% had myopia, 13,6% retinal detachment, 9% retinal degeneration, 36% strabism. 13,6% had arachnodactyly, 13,6% cardiac involvement.
36,4% were in childhood and adolescence at diagnosis. MFS is no treatable disease in contrast to homocystinuria. Therefore homocystinuria must be ruled out in all patients with ectopia lentis, but direction of lens dislocation is a weak criteria in differential diagnosis of marfan phenotype. With increasing age there is an increasing prevalence of GL or OH, independent of myopia. At present, diagnosis of MFS is still based on clinical examination. In some patients some manifestations of MFS are not evident until adolescence.
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