Corneal opacities in spondyloepiphyseal dysplasia tarda

Abstract

Spondyloepiphyseal dysplasia tarda is an inherited skeletal dysplasia involving the spine and epiphyses of long bones with onset in childhood, giving rise to disproportionate short stature and degenerative spine and hip disease. Associated ocular disease is not commonly recognized. We report a patient with spondyloepiphyseal dysplasia tarda and a unique pattern of corneal opacities. Bilateral, irregularly shaped, nodular, deeply posterior opacities confined to the peripheral cornea were noted in this patient. A central stromal granularity was also seen. Minimal visual loss was associated with these findings. An X-linked inheritance pattern is presumed but could not be confirmed.