VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation.

Purpose: Keratoconus is a noninflammatory corneal disorder that is clinically and genetically heterogeneous. Mutations in the VSX1 (visual system homeobox 1) gene have been identified for two distinct, inherited corneal dystrophies: posterior polymorphous corneal dystrophy and keratoconus. To evaluate the possible role of the VSX1 gene in a series of Italian patients, 80 keratoconus-affected subjects were screened for mutations.

Losses of hemifield contrast sensitivity in patients with pituitary adenoma and normal visual acuity and visual field.

Objective: To detect early losses of contrast sensitivity (CS) in patients with pituitary adenomas, before the occurrence of visual acuity and visual field defects.

Methods: CS has been evaluated in both hemifields of 28 patients with different kinds of pituitary adenoma (mainly intrasellar) and normal visual acuity and visual field, as well as in 15 age-matched controls. Two different stimuli were used: a coarse (0.