Complex sporadic colobomata.
نویسنده
چکیده
Sporadic colobomata may be associated with a variety of secondary changes, and these have been classified and discussed with special reference to unusual findings published during recent years. Clinically some cases may appear to be neoplastic, and pathological examination may be important in demonstrating their true nature. A malformation apparently not previously reported is described.
منابع مشابه
Colobomata associated with Noonan's syndrome.
A patient with Noonan's syndrome and fundal colobomata in both eyes is described. To our knowledge, this is the first report of the association of colobomata with Noonan's syndrome. Although the patient had poor sight since early childhood and dyspnea on exertion as a teenager, the diagnosis of Noonan's syndrome was not made until early adulthood. We hope this report will encourage recognition ...
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Many reports of colobomata of the choroid, involving the peripheral choroid, are available in the literature, but no case of a localized congenital choroidal defect in the peripapillary region has bcen reported. A case of such colobomata present on both sides is reported here which, since coming under observation I0 years ago, has presented a considerable diagnostic problem to different ophthal...
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متن کاملAn autosomal dominant syndrome of uveal colobomata, cleft lip and palate, and mental retardation.
This report details a family in whom there is autosomal dominantly inherited uveal colobomata, associated eye defects, and cleft lip and palate occurring in twelve subjects over three generations. Considerable variability in expression of the gene is apparent, uveal colobomata being the most constant feature, and the full syndrome probably includes mental retardation of varying degree. The poss...
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عنوان ژورنال:
- The British journal of ophthalmology
دوره 62 6 شماره
صفحات -
تاریخ انتشار 1978