Weil-Marchesani Syndrome in an Eight Year Old Girl

General Ophthalmology

Abstract

Background: Weill–Marchesani syndrome is a rare systemic connective tissue disease. Ocular features include ectopia lentis with inferior subluxation in 50% of cases. Microspherophakia is also common with resultant anterior lens subluxation causing pupil block or complete luxation into the anterior chamber. Systemic features include short stature, brachydactyly, stiff joints and mental handicap.

Case Report: An 8 year old girl, primary one pupil presented to the paediatric eye clinic of Eleta Eye Institute with 1 year history of  progressive loss of vision, worse in the left eye associated with progressive enlargement of the left globe. Visual acuity at presentation was hand movement(HM) in the right eye and no light perception(NPL) in the left eye. There was no preceding history of trauma. She was noticed to have short stature like her mother. The right eye had clear cornea and normal anterior chamber depth. There was microspherophakia with antero-inferior subluxation. The intraocular pressure was normal. The left eye was buphthalmic with poor view of the pupil and the lens. She had uneventful right lens extraction at University College Hospital, Ibadan and evisceration of the left eye with an implant. She was commenced on visual rehabilitation with full spectacle correction with distance visual acuity correction of 6/24 and near correction of N18 in her right (only) eye.