Ocular immune reactants in patients dying with systemic lupus erythematosus.

Immunopathologic studies were performed on ocular tissue obtained at autopsy in five patients with systemic lupus erythematosus (SLE). The immunopathologic findings were correlated with histopathologic and clinical features of SLE. Immune reactants were demonstrated by direct immunofluorescence in all patients in a granular pattern suggesting immune complex aggregates; control ocular tissues from four patients without SLE were negative. Ultrastructural studies demonstrated corresponding electron-dense aggregates in a majority of samples. Histologic and gross anatomic evidence of inflammation were generally more focal and less frequent than the distribution of immune reactants. Most of the immune deposits were localized in the walls of blood vessels of the conjunctiva, ciliary body, retina, choroid, and sclera. Diffuse deposits were also found in association with basement membranes in ciliary body (two of five patients) and along the epithelial basement membrane in the cornea (two of five). Immune deposits in peripheral nerves of the ciliary body and conjunctiva in one patient with visual symptoms contained immunoglobulins A and E. The most intense and widespread ocular immune deposits were observed in patients with persistently increased serologic and clinical activity of their systemic disease. These results suggest a role for immune complex localization in the pathogenesis of the ocular lesions of SLE.

Posterior keratoconus associated with systemic abnormalities.

A 16-year-old girl with bilateral congenital posterior keratoconus of the localized type had corneal transplantation performed on one eye. Around the scarred central corneal cone there was a ring of Descemet's membrane with large knob-like excrescences. A small anterior subcapsular cataract was also present in this eye. The pattern of corneal scarring, as seen by electron microscopy, suggested an iridocorneal or iridocorneolenticular adhesion present at the 8- to 20-mm embryonic stage. Associated systemic defects, which could be dated to the same period, were median facial clefting and severe genitourinary abnormalities. Several external features, such as short stature, abnormal gait, broad nose, and upward displacement of the lateral canthi, were similar to those in the Haney-Falls syndrome of familial posterior keratoconus. No appreciable chromosomal abnormalities were found.

Corneal transplantation in familial dysautonomia.

A 15-year-old girl with familial dysautonomia had acute corneal ulcerations while on a respiratory during a dysautonomic crisis. Within 18 days she developed irritating corneal ring calcifications. Subsequent corneal perforation in the left eye was treated successfully with a lamellar graft, followed later by a penetrating graft in the right eye under local anesthesia. Four days postoperatively, the patient died during a vomiting crisis. Neuropathologic studies showed marked cell reduction in the superior cervical and trigeminal ganglia, but slight in the ciliary. The foveas appeared immature and macular ganglion cells were mildly reduced. The corneal button and lamellar grafted cornea had severe thinning and superficial calcification. Keratoplasty in familial dysautonomia is considered hazardous because of the continual threat of vomiting crises, but with sufficient care may be worthwhile for corneal perforation or advanced corneal scarring.