Korean Journal of Ophthalmology 21(4):255-260, 2007 DOI : 10.3341/kjo.2007.21.4.255 A Case of Weill-Marchesani Syndrome with Inversion of Chromosome 15 Jae Lim Chung, MD,1 Sun Woong Kim, MD,2 Ji Hyun Kim, MD,1 Tae-im Hyung Keun Lee, MD,1 Eung Kweon Kim, MD1 Kim, MD,1 Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine1, Seoul, Korea Department of Ophthalmology, Soonchunhyang University College of Medicine, Soonchunhayng University Bucheon Hospital2, Bucheon, Korea Purpose: To present a case of Weill-Marchesani syndrome with corneal endothelial dysfunction due to anterior dislocation of a spherophakic lens and corneolenticular contact. Methods: A 17-year-old woman presented with high myopia and progressive visual disturbance. She was of short stature and had brachydactyly. Her initial Snellen best corrected visual acuity (BCVA) was 20/50 (-sph 20.50 -cyl 3.00 Ax 180) in her right eye and 20/40 (-sph 16.00 -cyl 6.00 Ax 30) in her left eye. Slit lamp examination revealed a dislocated spherophakic lens touching corenal endothelium. A microspherophakic lens, hypoplastic ciliary body, and elongated zonules were confirmed on rotating Ⓡ Scheimpflug camera (Pentacam ) and on ultrasound biomicroscopy. Specular microscopy showed corneal endothealial dysfunction. Systemic evaluation was performed, and chromosomal study showed 46, XX, inv (15) (q13qter). The patient was diagnosed with Weill-Marchesani syndrome. Results: Due to impending corneal decompensation, phacoemulsification and suture fixation of the intraocular lens were performed. The operation and postoperative course were uneventful. Three months postoperatively, the visual acuity was 20/30 (OD) and 20/40 (OS) without correction, and BCVA was 20/20 (+sph 0.50 -cyl 2.00 Ax 160 : OD) and 20/25 (+sph 1.50 -cyl 3.00 Ax 30 : OS). During the follow-up period, increased corneal endothelial counts, hexagonality, and decreased corneal thickness were achieved. Conclusions: In Weill-Marchesani syndrome with a chromosomal anomaly, a dislocated spherophakic lens may cause severe corneal endothelial dysfunction due to corneolenticular contact, and prompt lensectomy is important to prevent such complications. Korean Journal of Ophthalmology 21(4):255-260, 2007 Key Words: Chromosome 15, Inversion, Lens dislocation, Spherophakia, Weill-Marchesani syndrome Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder first described by Weill1 in 1932, and further delineated by Marchesani.2 Alternatively it has been named spherophakia-brachymorphia syndrome, or congenital mesodermal dysmorphodystrophy. Diagnositc criteria of WMS includes: (1) short stature; (2) brachydactyly; (3) microspherophakia and/or ectopia lentis.3 These patients may have joint stiffness and heart defects. Most patients have been described by ophthalmologists, since ocular symptoms and signs are characteristic of this syndrome and call for clinical attention. Received: May 28, 2007 Accepted: August 27, 2007 Reprint request to Eung Kweon Kim, MD. Department of Ophthal- mology, College of Medicine, Yonsei University, Seoul 120-752, Korea. Tel: 82-2-2228-3577, Fax: 82-2-312-0541, E-mail: eungkkim@yumc.yonsei.ac.kr * This study was presented as a poster at the 96th Annual Meeting of the Korean Ophthalmological Society, November 2006. Characteristic eye abnormalities consist of dislocation of the microspherophakic lens, which causes high myopia, acute and/or chronic angle-closure glaucoma and cataracts. Despite the disease's clinical homogeneity, autosomal recessive and autosomal dominant modes of inheritance have been reported.4,5 Here, we report a sporadic case of WMS, presenting with corneal endothelial dysfunction due to a dislocated lens and corneolenticular contact. The spherophakic lens was morphologically confirmed by a rotating Scheimpflug camera and ultrasound biomicroscopy. Lensectomy with intraocular lens fixation was performed for visual rehabilitation. Case Repo rt A 17-year-old woman was referred to our clinic with high myopia and progressive visual disturbance. Her height was 147 cm, and her body weight was 50.6 kg. She had 255