Ophthalmic Manifestations of Schimke Immuno-Osseous Dysplasia

Abstract

Abstract: : Purpose: Schimke Immuno-Osseous Dysplasia (SIOD) is a rare autosomal recessive disease characterized by spondyloepiphyseal dysplasia, defective cellular immunity, progressive nephropathy and other additional systemic findings. The purpose of this report is to describe previously unreported ophthalmic findings in two siblings with SIOD. Methods: Observational case reports of two siblings with Schimke Immuno-Osseous Dysplasia and associated ophthalmic findings. Results: The first patient was a 24 year-old white female and the second patient was a 34 year-old white female who was the older sibling of the previous patient. Both patients had history of multiple systemic conditions characteristic of SIOD and both presented with complaints of nyctalopia and decreased peripheral vision. Findings consistent with both ocular cicatricial pemphigoid and retinitis pigmentosa were present in both siblings. Goldman perimetry was abnormal in both patients with classic ring scotomas in three of the eyes and no peripheral sparing in the left eye of the younger sibling. ERG of the older sibling revealed decreased cone and rod responses in both eyes. Conjunctival biopsy from the older sibling was diagnostic for ocular cicatricial pemphigoid. Conclusions: We describe two siblings with SIOD and previously unreported ophthalmic findings of retinitis pigmentosa and ocular cicatricial pemphigoid. Although the pathophysiology of SIOD is currently not well understood, the underlying immune dysfunction of these patients may contribute to development of these ocular conditions. These findings may help to elucidate the pathophysiology of SIOD and lead to potentially new treatment options. Additionally, these findings suggest that early ophthalmological examination is indicated early in the course of this disease.

Keywords: retinal degenerations: hereditary • retina • autoimmune disease