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Microcornea and Subluxated Lenses Due to a Splicing Error in the Fibrillin-1 Gene in a Patient With Marfan Syndrome
Arch Ophthalmol. 2003;121:579-581.
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Marfan syndrome (MFS) is an autosomal dominant syndrome resulting from mutations in the fibrillin-1 gene (FBN1) on chromosome 15q21.1. Ectopia lentis is the major ocular criterion. Minor ocular criteria include flat corneas, increased axial length (>23.5 mm), and iris hypoplasia with miosis. We report the first genetically confirmed case of microcornea in MFS with a novel FBN1 mutation.1
Report of a Case
This female patient with MFS (including tall stature, positive wrist and thumb signs, joint hypermobility, highly arched palate, frontal bossing, and mitral valve prolapse) demonstrated progressive inferotemporal lens subluxations (Figure 1A and B) and increasing myopic astigmatism in both eyes. Her keratometry readings were 42.35 diopters OU, and axial lengths were 25.7 mm OU. She refused spectacle correction and became contact lens intolerant as a result of poor hygiene.
Figure appears in full text version.
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Figure 1. A and B, Preoperative appearance of the right eye seen by direct illumination (A) and of the . . . [Full Text of this Article]
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Comment.
Corresponding author and reprints: Helen A. Mintz-Hittner, MD, University of Texas–Houston Medical School, Department of Ophthalmology and Visual Science, 6410 Fannin, Suite 920, Houston, TX 77030-5204 (e-mail: helen.a.mintz-hittner@uth.tmc.edu).
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