Weill‐Marchesani syndrome: displaced lens, displaced pupil, displaced diagnosis

Abstract

PurposeWeill‐Marchesani Syndrome (WMS) is a rare, multi‐system, connective tissue disorder characterised by short stature, brachydactyly and ocular disturbance in late childhood. The cardinal ophthalmic feature is a microspherophakic lens which commonly results in lens subluxation, lenticular myopia, cataract formation and chronic glaucoma. Corectopia is a finding associated with lens subluxation but can also be a complication of ocular surgery. Until now, there are no reported cases of corectopia in WMS.MethodsWe describe the case of a 26‐year‐old female who presented with progressive blurring of vision on a background of high myopia, glaucoma and bilateral cataracts. The patient had undergone multiple procedures to control intraocular pressures, including bilateral trabeculectomy and glaucoma valve insertion in the left eye. She was diagnosed with WMS two years ago, but was lost to follow up.ResultsExamination revealed inferior subluxation and opacification of the lens bilaterally. Interestingly, the left pupil was displaced nasally and corneal bullae were noted on the inferior surface of the left eye. She was listed for bilateral phacoemulsification and intraocular lens insertion following this consultation, however re‐presented with sudden deterioration in vision within one week. Her right lens was displaced anteriorly but there was no corneal oedema. She subsequently underwent emergency lensectomy and was left aphakic in that eye.ConclusionsWMS often goes undiagnosed in childhood. A greater awareness of the presenting features of the condition is important for early recognition and referral onto secondary care for specialist ophthalmic input. Our experience demonstrates that screening for complications is of paramount importance and early lensectomy may prevent irreversible ocular damage and improve visual outcomes.