Lens coloboma and lens dislocation in Stickler (Marshall) syndrome

Background: Both, Stickler and Marshall syndrome are dominantly inherited, connective tissue disorders with highly variable individual manifestations. Probably, both syndromes represent the same entity with occasional partially different clinical manifestations.

Methods: We are reporting on a female patient with typical ocular and systemic manifestations of both syndromes: high myopia, glaucoma and goniodysgenesis, submucosal cleft palate, sensorineural hearing loss, and "flat" mid-face. Additionally, we observed subluxation of the ocular lens in one eye which was previously described in only a few cases. In our case, subluxation was combined with nasal coloboma of the lens and congenital cataract. This represents the first report of coloboma of the ocular lens as a manifestation of Stickler (Marshall) syndrome. In both children of the patient manifestations of the syndrome were present (high myopia, cleft palate, sensorineural hearing loss).

Conclusions: Coloboma and subluxation of the lens have to be regarded as possible manifestations of the Stickler (Marshall) syndrome. The syndrome(s) should be included in the differential diagnosis of ectopia lentis-associated systemic diseases.