A rare case report of Weill Marchesani syndrome.
Journal Title: BJKines-National Journal of Basic & Applied Science - Year 2018, Vol 10, Issue 2
Abstract
Weill Marchesani syndrome is a rare genetic disorder characterized by short stature, brachydactyly, microspherophakia, lenticular myopia, ectopia lentis and lens induced glaucoma. Ocular complications can be managed by laser iridotomy, lens extraction & trabeculectomy if needed. In this report, we present the clinical manifestations of Weill Marchesani syndrome in a 13 year old female patient presenting with diminution of vision in both eyes with similar complains in her brother. On examination she had short stature, brachydactyly, bilateral microspherophakia and pupillary block glaucoma. For both eyes clear lens extraction was performed followed by right eye trabeculectomy with mitomycin C. Her best corrected visual acuity improved to 6/24 from 6/60in both eyes and with control of intraocular pressure (right eye 8 mm Hg from 40 mm Hg, left eye 14 mm Hg from 28 mm Hg with use of topical treatment in left eye).
Authors and Affiliations
Dr. chandni Sinojia, Dr. Palak Modi, Dr. Purvi Bhagat
Keywords
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