Autosomal dominant keratitis: a possible aniridia variant

To describe the findings in a family with hereditary keratitis.

Case series.

Eye genetics clinic at a university-affiliated hospital in Edmonton.

Fifteen affected members, nine female and six male, of a four-generation family with hereditary keratitis.

The pattern of transmission was consistent with autosomal dominant inheritance. The disorder was characterized by the presence of a circumferential band of opacification and vascularization at the level of Bowman's membrane adjacent to the limbus. Progression toward the central cornea occurred in some instances. Penetrating keratoplasty was performed in certain cases when the visual axis was involved and the acuity deteriorated. Histopathological studies confirmed the inflammatory nature and the anterior stromal localization of the keratitis. Thirteen of the affected members in whom a detailed fundus examination was possible had macular hypoplasia. Several had abnormalities of the iris, including iris stromal defects and ectropion uveae.

The presence of macular hypoplasia in association with the iris and corneal changes suggests that autosomal dominant keratitis is likely a variant of aniridia.