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Case Report
10 (
2
); 18-23

A rare case report of Weill Marchesani syndrome.

Third year resident, M & J Western Regional Institute of Ophthalmology, B. J. Medical College & Civil Hospital, Ahmedabad, Gujarat.
Second year resident, M & J Western Regional Institute of Ophthalmology, B. J. Medical College & Civil Hospital, Ahmedabad, Gujarat.
Associate professor, M & J Western Regional Institute of Ophthalmology, B. J. Medical College & Civil Hospital, Ahmedabad, Gujarat.

*Corresponding Author: Dr. Chandni Sinojia E-mail: ccsinojia@gmail.com

Licence
This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-Share Alike 4.0 License, which allows others to remix, transform, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.

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).

Keywords

Ectopia lentis
Microspherophakia
Pupillary block glaucoma

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