Spherophakia, nanophthalmia, hypoplastic ciliary body and glaucoma in brachydactyly-associated syndromes

Three juvenile patients showing a systemic disorder associated with small stature, brachydactyly and glaucoma were discovered to have spherophakia and a nanophthalmic axial length of the eye between 20.29 and 21.26 mm. According to clinical and radiological criteria only one patient was classified as having Marchesani syndrome; one patient suffered from an acrofacial disorder, and the third displayed typical ocular signs of Rieger syndrome. Pupillary block mechanism had led to glaucoma in all three patients. Despite iridectomy and trabeculotomy, two of them had unregulated intraocular pressure (IOP) and showed partial angleblock by progressive anterior synechiae after surgery. Ultrasonographic biomicroscopy revealed in all cases considerable hypoplasia of the ciliary body. We conclude that the clinical combination of spherophakia and brachydactyly is not necessarily limited to Marchesani syndrome. In the wide range of brachydactyly-associated syndromes an ophthalmic examination should always be performed in order to rule out ocular complications such as spherophakia and secondary glaucoma. We could not confirm Marchesani's hypothesis of a hyperplastic ciliary body in the spherophakia-brachydactyly syndrome, considering our nanophthalmic eyes. Pressure-reducing surgery in eyes with spherophakia and nanophthalmia seems to run a high risk of inducing an extensive formation of anterior synechiae.