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
