Case Reports

Weill-Marchesani syndrome, rare genetic disorder of connective tissue - A case of report

Case Report Details

First Author: S.Sultana BANGLADESH

Co Author(s):                        

Abstract Details

Purpose:

Weil Marchesani Syndrome is a rare genetic disorder of connective tissue disease charecterized by abnormalities of the eye,short stature, an brachycephaly and joint stiffness. The ocular abnormalities include microspherophakia, ectopia lentis, myopia. Weil Marchesani Syndrome followes autosomal recessive or autosomal dominant inheritance. The symptoms and findings vary from person to person.Ectopia lentis may be characterized by subluxation or complete dislocation of the lenses, resulting in blurring of vision, double vision (diplopia), and/or iridodonesis, cataracts; shallow anterior chambers; and/or secondary glaucoma. Individuals with Weill-Marchesani syndrome may have varying degrees of visual impairment. Prevalence is 1 in 100000.

Setting:

Ispahani Islamia Eye Institute and Hospital, Dhaka, Bangladesh

Report of Case:

A 30 years male patiented with gradual dimness of vision, frequent change of spectacles and eyeache. One of his younger sister also suffering from similar problem. No history of consaguineous marrige of parents. His visual acuity 6/60 both eyes and best corrected vision was 6/18 in both eyes ( OD- 7.00/- 2.00x 35 and OS -7.00/-4.00x35). Iridodonesis present with shallow anterior chamber. Lens was subluxated inferio-medially with microspherophakia and transparent. Intraocular pressure raised in right eye (22mmHg) and normal in left eye. On gonioscopy angle was open. The patient has short stature (4ˊ4˝) with high arched palate. Muskuloskeletal system shows bchydactyly, malformed heel with abnormal gate, restricted mobility of joints and diminished muscle power.

Conclusion/Take Home Message:

As Weil Merchesani Syndrome is a very rare genetic disorder so clinical knowledge with early proper management will provide restoration of vision and prevent complication.The treatment is for symptomatic and supportive. Require the coordinated effort of ophthalmologist, physician and orthopedists. Early diagnosis of ocular abnormalities is important to ensure optimal vision(corrective glass, surgeries). The miosis or mydriasis of the pupil may induce glaucoma. The miotics for glaucoma is contraindicated and dilatation should done with extreme care. Patient education, genetic councelling should done.

Financial Disclosure:

None