Weill-Marchesani-like syndrome is a rare congenital disorder that has been reported in only a handful of cases worldwide. It is characterized by spherophakia, myopia, ectopia lentis, glaucoma and short stature. Affected patients usually have shallow anterior chambers, peripheral iris synechiae and an axial length between 21 to 23 mm. As the name suggests, this disorder is similar to Weill-Marchesani syndrome (WMS) in its ocular symptoms. However, patients do not suffer from the brachydactyly or joint stiffness usually seen in WMS.
The reduction in visual acuity caused by this disorder can be improved by corrective lenses. Depending on the severity, surgery may be required to prevent loss of vison.
Khan et al. (2012) analyzed two siblings presenting with short stature and spherophakia. The patients, a 22-year-old female and a 16-year-old male, were born to healthy consanguineous Saudi Arab parents and had nine other unaffected siblings. The female patient was 137.8 cm tall and weighed 48 kg while the male sibling was 136.9 cm tall and weighed 36 kg. On examination, both patients showed signs of significant spherophakia. The female patient had shallow anterior chambers and frequent peripheral anterior iris attachments. Axial length was 21.48 mm in the right eye and 21.29 mm in the left eye. Her best corrected visual acuity in either eye was 20/25. The male patient had moderate anterior chamber depth and rare peripheral iris processes. Axial length was found to be 24.12 mm in the right eye and 24.10 mm in the left eye. His visual acuity was 20/30. Apart from their short stature and need for glasses, the patients did not show any other symptoms. Genetic testing unveiled a novel homozygous mutation in the ADAMTS17 gene of both affected patients.