Klinische Monatsblatter fur Augenheilkunde · 1997
[Lens coloboma and lens dislocation in Stickler (Marshall) syndrome].
Клинический случайАннотация на английскомСтатьяНазвание и аннотация: Перевод в очереди
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Schlote T, Völker M, Knorr M, Thiel H J
Аннотация
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.
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.