Linsenkolobom und Subluxatio lentis beim Stickler-(Marshall-) Syndrom

Summary

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.

Patient 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).

Conclusion 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.

Schlüsselwörter

Bindegewebserkrankungen - Stickler-Syndrom - Marshall-Syndrom - Subluxatio lentis - Linsenkolobom

Key words

connective tissue disorders - Stickler syndrome - Marshall syndrome - subluxation - lens coloboma