[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.
Schlote
T
T
Abteilung I (Allgemeine Augenheilkunde mit Poliklinik), Universitäts-Augenklinik Tübingen.
Völker
M
M
Knorr
M
M
Thiel
H J
HJ
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002648:Child; D003103:Coloboma / Q000175:diagnosis / Q000235:genetics*; D004479:Ectopia Lentis / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D007908:Lens, Crystalline / Q000002:abnormalities*; D008297:Male; D013577:Syndrome
Linsenkolobom und Subluxatio lentis beim Stickler-(Marshall-) Syndrom.