FAMILIAL LENS ECTOPIA IN MARFAN SYNDROME

Marfan syndrome (MFS) is a systemic connective tissue disease characterized by a variable combination of cardiovascular, musculoskeletal, ophthalmological and pulmonary manifestations. It is an autosomal dominant hereditary condition with variable expressiveness. Diagnosis of MFS depends on clinical evaluation, family history, and molecular data, in accordance with the Ghent criteria. Ectopic lens is the main ocular manifestation of the disease.

MFS ocular complications include cataract, myopia, glaucoma, amblyopia, corneal flatness, and retinal detachment. In MFS, ectopia lentis is typically bilateral and dislocated superior-temporally. It is also considered to be one of the cardinal clinical features in the revised Ghent criteria.

We present the case of a family whose father and two of his children have marfan syndrome complicated by ectopic lens

    The father had Marfan morphological anomalies and unexplained visual impairment, he died at the age of 36 due to a heart condition (no documents)

The 15-year-old son has been followed since the age of 4 for lens ectopia revealed by a decrease in visual acuity. His examination found a tall and thin child with thinness and long slender fingers. A visual acuity of 7/10 bilaterally initially. The action to be taken was an optical correction and treatment of amblyopia. At the last check-up a month ago: the visual acuity of the right eye has dropped to 1/10 and at automatic refraction: over cylinder (the left eye is at 10/10 with optical correction). The surgical indication was retained for the right eye: phacophagy and anterior vitrectomy.

The 7-year-old girl, followed since the age of 5 in a peripheral hospital for amblyopia, was also examined at the consultation. On examination, we find the same morphology as his brother, a visual acuity of 5/10 in both eyes. Refraction under cyclopentolate finds: OD: -10 (-3 to 180) OS: -12.25 (-7.50 to 160) with a bilateral superior lens ectopia,  larger on the left eye. The rest of the exam is unremarkable. We opted for medical treatment (optical correction and treatment of amblyopia) and regular monitoring.

Children with Marfan syndrome should have regular examinations to identify potential complications. It is necessary to systematically examine the siblings in case of suspicion of Marfan or in case of ectopic lens. Ectopic lens should be considered in front of any amblyopia or progressive astigmatism, it is important to properly dilate the patient. Treatment should be multidisciplinary.