Microspherophakia with Novel Gene Mutations in a Young Girl

Abstract

A 4-year-old girl presented with -20.00 diopters of myopia and best corrected visual acuity (BCVA) of 20/200 in each eye, was diagnosed as microspherophakia. Shallow anterior chambers and tremors of the small thickened crystalline lenses and iris were observed in both eyes with pupil dilation (Figure 1). Elevated intraocular pressure was controlled with thymoxamine. Novel compound heterozygous LTBP2 mutations were detected (c.4760G>A, c.620G>A). Bilateral lens extraction with transscleral-sutured intraocular lens implantation was performed for treatment of amblyopia and glaucoma.