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April 1992

The Marfan Syndrome Is Caused by a Point Mutation in the Fibrillin Gene

Author Affiliations

Baltimore, Md

Arch Ophthalmol. 1992;110(4):472-473. doi:10.1001/archopht.1992.01080160050027

In 1896, Marfan1 described the syndrome that would come to bear his name in a 5½-year-old girl with severe connective tissue disease. Her condition was not unlike that seen in two young girls whose identical mutations of the fibrillin type 1 gene were recently described by Dietz et al.2 In these two unrelated, sporadic cases of the Marfan syndrome, the diagnosis was suspected at birth because of severe arachnodactyly, lack of subcutaneous fat, and typical facial appearance. The patients were first seen at ages 4 and 2½ years for an ocular evaluation, and both had microspherophakia with marked iridodonesis, but the lenses were in the pupillary axis. Both girls had myopia ( − 31.00 OD and −30.00 OS in one, and − 18.00 OD and −16.50 OS in the other). Axial length measurements were 26.4 mm OD and 26.4 mm OS, and 23.9 mm OD and 23.2 mm OS