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Congenital retinal disinsertion syndrome.

The congenital retinal disinsertion (CRD) syndrome refers to cases of retinal detachment with disinsertion and may be divided into two groups. Group 1 reported by Hovland and co-workers includes healthy children with bilateral detachments and giant tears nasally, lens coloboma, and center anterior and posterior cortical lens opacities. Group 2 includes healthy children with a unilateral detachment often associated with microphthalmos and catatract. The opposite eye may show a combination of changes including small central anterior and posterior cortical lens opacities, lens colobomas, and paving-stone degeneration. The patients may have an increased risk of developing a detachment in the second eye, and some of these eyes have been treated with cryopexy. Seven patients belonging to group 2 have been described and four of these had unilateral cataract and microphthalmos. Two other patients had some degree of unilateral microphthalmos. Small central anterior or posterior cortical lens opacities were found in five eyes, and lens colobomas were found in two eyes. Six out of seven patients had varying degrees of paving-stone degeneration temporally in the nondetached eye. The CRD syndrome was familial in two patients who were sisters. Pathologic studies were done in the eyes of three patients.