COLOBOMA AND SUBLUXATION OF THE LENS IN STICKLER (MARSHALL) SYNDROME

Background Both, Stickler and Marshall syndrome are dominantly inherit ed, connective tissue disorders with highly variable individual manife stations. Probably, both syndromes represent the same entity with occa sional partially different clinical manifestations. Patient We are rep orting on a female patient with typical ocular and systemic manifestat ions of both syndromes: high myopia, glaucoma and goniodysgenesis, sub mucosal cleft palate, sensorineural hearing loss, and ''flat'' mid-fac e. Additionally, we observed subluxation of the ocular lens in one eye which was previously described in only a few cases. In our case, subl uxation was combined with nasal coloboma of the lens and congenital ca taract. This represents the first report of coloboma of the ocular len s as a manifestation of Stickler (Marshall) syndrome. In both children of the patient manifestations of the syndrome were present (high myop ia, cleft palate, sensorineural hearing loss). Conclusion Coloboma and subluxation of the lens have to be regarded as possible manifestation s of the Stickler (Marshall) syndrome. The syndrome(s) should be inclu ded in the differential diagnosis of ectopia lentis-associated systemi c diseases.