128 cases of WMS-Including 57 AR cases, 50 AD cases, and 21 sporadic cases-Faivre et al.3 found no significant differences in the mode of inheritance for patients with short stature, brachydactyly, mental retardation, myopia, and glaucoma. Some differences were found for microspherophakia (94% in AR, 74% in AD), ectopia lentis (64% in AR, 84% in AD), joint limitation (49% in AR, 77% in AD), and cardiac anomalies (39% in AR, 13% in AD). Some heterozygotes for the AR form presented with mild clinical manifestations of the disease.9 These results underscore the difficulties of genetic counseling in sporadic cases. Genetic mutations in WMS have been mapped to FBN1 (fibrillin-1, gene map locus 15q21.1),10 ADAMTS-10 (A disintegrin-like and metalloproteinase with thrombospondin type 1 motif 10, gene map locus 19p13.3-p13.2),4 and ADAMTS-1 (gene map locus 21q21.2).11 ADAMTS metalloproteinase is involved in various human biological processes (normal or pathological), including connective tissue organization/turnover, coagulation, inflammation, arthritis, angiogenesis, and cell migration.12 It has recently gained attention with the discovery of its role in a variety of diseases, including tissue and blood disorders, cancer, osteoarthritis, Alzheimer's and the genetic syndrome autosomal recessive WMS (ADAMTS-10), thrombotic thrombocytopenic purpura (ADAMTS-13), and Ehlers-Danlos syndrome type VIIC (ADAMTS-2).13 Fibrillin, encoded by a locus on human chromosome 15, is the major constitutive element of extracellular microfibrils and has widespread distribution in both elastic and nonelastic connective tissue throughout the body.14 Fibrillin was immunolocalized to the ciliary zonule, a ligamentous structure consisting mainly of fibrillin microfibrils that is characteristically affected in Marfan syndrome and WMS.15 Mutations in the FBN1 gene are the major cause of Marfan syndrome and autosomal dominant WMS.10 In this case, there was an inversion of chromosome 15, which might be associated with the fibrillin abnormality. To confirm this genetic mutation, allele-specific RT-PCR reaction analyses or direct sequencing of genome are required because the fibrillin gene is large and the coding sequence is highly fragmented (65 exons).10 Angle-closure glaucoma can occur in spherophakia through the pupillary block mechanism caused by the dislocation of the lens into the anterior chamber or forward movement of the lens, which depends on the zonular integrity.16 When zonules are intact, the anterior lens curvature and forward positioning of the lens can lead to iridolenticular contact and pupillary block. The zonules are typically long in WMS, and the loosening of the zonules allows the globular lens to move forward, producing corneolenticular contact and pupillary block. Glaucoma is mainly reported in the literature mainly when spherophakia is associated with WMS.17 Glaucoma in isolated and familial spherophakia is less widely reported.18 In this case, the initial IOP (26/22 mmHg) were decreased to 22/19 mmHg by pupillary dilation. Pupillary block is JL Chung, et al. WEILL-MARCHESANI SYNDROME exacerbated with miotics and relieved by mydriatics. Urbanek19 introduced the term inverse glaucoma to describe this phenomenon. Miotics cause ciliary muscle contraction and loosening zonular support, allowing forward movement of the lens and shallowing of the anterior chamber, eventually leading to pupillary block. Cycloplegics relax the ciliary mucle, tighten zonular support, and cause posterior lens movement. If miotics do not cause an IOP rise, the lens is probably dislocated with poor zonular support.17 Laser peripheral iridotomy can relieve pupillary block, and the area of appositional angle closure can be opened. If pupillary block in spherophakia remains undiagnosed, and if treatment (e.g. iridotomy) is delayed, permanent peripheral anterior synechiae and irreversible damage to the trabecular meshwork may result. In this circumstance, the IOP may remain elevated after iridotomy, and can be difficult to control.17 In this case, due to impending corneal decompensation by corneolenticular contact and chronic IOP elevation despite peripheral iridotomy, there were no alternatives other than prompt surgical intervention. By surgical lensectomy and intraocular lens implantation, decreased corneal thickness, increased corneal clarity, increased corneal endothelial counts, and good IOP control could be achieved. Increased endothelial counts and hexagonality suggest that peripheral endothelial cells had migrated and redistributed because of the elimination of corneolenticular contact. This case shows that even in complicated cases and under suboptimal conditions, it is possible to achieve good visual rehabilitation with rapid intervention and modern surgical techniques. Modern imaging devices can be helpful in easily diagnosing this rare disease. By using slit lamp examination only, we can make a diagnosis of spherophakia roughly. However, it is hard to evaluate the zonular integrity and exact status of corneolenticular contact. As mentioned earlier in this article, the fetal lens, which is physiologically spherical, has never been subjected to the force of a properly acting ciliary body and zonules.6 The pathology of spherophakia is related mainly to the weakened zonule due to fibrillin abnormalities. Moreover, it is important to assess the zonular integrity to decide the proper surgical treatment plan. There have been reports of spherophakia assessment using ultrasound biomicroscopy.6,18,20 In this case, we used ultrasound biomicroscopy and a rotating Scheimpflug camera to confirm WMS. This is the first report of WMS assessed by the rotating Scheimpflug camera. Rotating Scheimpflug camera provided higher definition and clearer images of whole anterior segment structures. The whole shape of the microspherophakic lens touching corneal endothelium, hypoplastic ciliary body, and elongated zonules could be clearly visualized with the rotating Scheimpflug camera. For an examination using ultrasound biomicroscopy, the immersion probe should be in contact with cornea, and the patient should be in prone position. So it is difficult to evaluate the accurate status of corneolenticular contact, 259