New Findings in Familial Spheroidal Keratopathy Described in Ethnic Chinese Siblings

Abstract

Abstract: : Purpose:To report novel clinical and microscopic findings in two cases of Familial Spheroidal Keratopathy, a rare corneal disorder Methods:Case report of 3 Chinese siblings. Clinical and microscopic data (H&E, PAS, Voerhoff, Masson's trichrome, and Congo red stains) are presented. Results:Three nonconsanguineous Chinese siblings were seen in Urumqi, China. Patient 1, a 27 year-old woman, noted the gradual onset of vision loss, epiphora, and photophobia since late childhood. Slit lamp exam revealed golden-amber spheroidal droplets in a dense gray haze within the anterior corneal stroma. Deep neovascularization was present. The peripheral cornea was thickened and hazy, a finding not previously noted in Familial Spheroidal Keratopathy. A corneal transplant was performed on the left eye. Pathology revealed characteristic features of Spheroidal Keratopathy: the spheroidal deposits stained green to black with Voerhoff's elastic stain, brown with Masson's trichrome, gray to pink with hematoxylin and eosin, and negatively with PAS. Congo red staining showed amyloid. Deep neovascularization was present. Descemet's membrane and endothelial cells were absent from this specimen. Patient 2, a 30 year-old man, complained of vision loss, photophobia, and epiphora beginning in late childhood. Slit lamp exam showed golden-amber droplets within a diffusely hazy stroma in a band-shaped pattern. The peripheral corneas were thickened and hazy. A corneal transplant was performed on the right eye. Pathology revealed the previously noted features of Spheroidal Keratopathy. Congo red staining was negative. Descemet's membrane was diffusely thickened and uniformly PAS-positive. Few endothelial cells were present. The latter two findings have not previously been reported in this disease. Patient 3, a 17 year-old female, has noted blurred vision without epiphora or photophobia since late childhood. Slit lamp exam showed diffuse haziness and thickening of both corneas without spheroidal changes. This patient did not have surgery, and no pathology specimen was obtained. Conclusion:We present two cases of the rare disorder Familial Spheroidal Keratopathy in nonconsanguineous siblings. Of 10 cases from 5 families reported in the literature, 3 families were consanguineous. Neovascularization and the presence of amyloid have been described previously in this condition. Based on our case specimens, we assert that amyloid deposition is secondary to corneal neovascularization. To our knowledge, this is the first report of peripheral corneal thickening, thickening of Descemet's membrane, and endothelial cell loss in association with Familial Spheroidal Keratopathy.

Keywords: 369 cornea: clinical science • 507 pathology: human