SPHEROPHAKIA, NANOPHTHALMIA, HYPOPLASTIC CILIARY BODY AND GLAUCOMA INBRACHYDACTYLY-ASSOCIATED SYNDROMES

Three juvenile patients showing a systemic disorder associated with sm all stature, brachydactyly and glaucoma were discovered to have sphero phakia and a nanophthalmic axial length of the eye between 20.29 and 2 1.26 mm. According to clinical and radiological criteria only one pati ent was classified as having Marchesani syndrome; one patient suffered from an acrofacial disorder, and the third displayed typical ocular s igns of Rieger syndrome. Pupillary block mechanism had led to glaucoma in all three patients. Despite iridectomy and trabeculotomy, two of t hem had unregulated intraocular pressure (IOP) and showed partial angl eblock by progressive anterior synechiae after surgery. Ultrasonograph ic biomicroscopy revealed in all cases considerable hypoplasia of the ciliary body. We conclude that the clinical combination of spherophaki a 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 co mplications 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 eye s. Pressure-reducing surgery in eyes with spherophakia and nanophthalm ia seems to run a high risk of inducing an extensive formation of ante rior synechiae.