Ocular findings in polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy.

A routine ophthalmologic examination supplemented by color fundus photography and, in 2 cases, by fluorescein angiography was performed in 8 patients with PLO-SL (= polycystic lipomembranous dysplasia with sclerosing leukoencephalopathy). Five patients showed some degree of retinal nerve fiber defect. The relation of the changes in ocular fundi to the pathological findings of PLO-SL are discussed.