Weill- Marchesani Syndrome: a rare case report

Abstract

Objective: To describe the presenting features of Weill-Marchesani syndrome Case: A 22-year-old man presented with high myopia and progressive visual disturbance. He was of short stature and had brachydactyly. His initial Snellen best corrected visual acuity (BCVA) was 6/24 in his right eye and 6/12 in his left eye. Slit lamp examination revealed a sub-luxated micro-spherophakic lens. The patient was diagnosed with Weill-Marchesani syndrome. Conclusion: Weill-Marchesani syndrome can present wwith progressive myopia in a person of short stature and brachydactyly.

A case of weill-marchesani syndrome with a novel mutation and vitamin d deficiency

“…Weill-Marchesani syndrome is a rare systemic connective tissue disorder. Most cases of WMS have been described by ophthalmologists, because ocular symptoms (microspherophakia, high myopia and secondary glaucoma) are at the forefront in this syndrome [4]. An abnormal increase in lens curvature leads to enhanced refractive power.…”

Acute lens-induced glaucomas: A review

“…In some cases, the lens dislocation may be preceded by a progressive myopia [35]. an AD or AR disease with a partial heterozygotic expression [37,38].…”