The ocular malformation of microcornea, uveal coloboma, high myopia, posterior staphyloma, and macrophthalmia was studied in a family. Clinical characteristics and ocular parameters, including refractive error and axial length, are summarized. The pedigree is consistent with autosomal dominant inheritance of the disorder; expressivity is variable. This unique malformation is differentiated from other well-recognized syndromes of colobomatous microphthalmia.
The results of RD operations done in the past in Marfan patients were worse when the eye was aphakic. In most cases operated more recently, the prognosis for successful RD repair was good regardless of whether the eye was phakic.
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