TY - JOUR AU - Puri, L R AU - Sharma, H AU - Aryal, S PY - 2012/07/27 Y2 - 2024/03/28 TI - Weill- Marchesani Syndrome: a rare case report JF - Nepalese Journal of Ophthalmology JA - Nep J Oph VL - 4 IS - 2 SE - Case Reports DO - 10.3126/nepjoph.v4i2.6558 UR - https://www.nepjol.info/index.php/NEPJOPH/article/view/6558 SP - 336-338 AB - <p><strong>Objective: </strong>To describe the presenting features of Weill-Marchesani syndrome</p> <p><strong>Case: </strong>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.</p><p><strong>Conclusion</strong>: Weill-Marchesani syndrome can present wwith progressive myopia in a person of short stature and brachydactyly.</p><p><span>DOI: <a href="http://dx.doi.org/10.3126/nepjoph.v4i2.6558">http://dx.doi.org/10.3126/nepjoph.v4i2.6558</a> </span></p><p><em><span>Nepal J Ophthalmol 2012; 4 (2): 336-338</span></em><span> </span></p><p> </p> ER -