Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the gene.

Aim: Oculocutaneous albinism type 1 (OCA1) is due to mutations. c.1205G>A/p.

Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting.

Albinism is a rare genetic disease, comprising syndromic and non-syndromic forms. We assessed clinical and genetic characteristics in a prospective evaluation of 64 patients (33 children and 31 adults) seen at a specialized day hospital. Causative genetic mutations were found in TYR (23/64, 35.

Spontaneous rupture of chorioretinal coloboma in an 8-year-old child is treated by temporal fascia graft.

We report the rare case of an 8-year-old boy with spontaneous scleral perforation secondary to an isolated congenital chorioretinal coloboma. Visual acuity was 20/200 and examination revealed severe hypotony with subcapsular cataract, complete exudative retinal detachment, hypotonous optic nerve swelling, and hypotony retinal fold. In the temporal periphery, there was a chorioretinal coloboma with a central full-thickness defect.

Evolution Profiles of Different Corneal Parameters in Progressive Keratoconus.

Purpose: To analyze the evolution profiles of several corneal topographic and tomographic parameters in progressive keratoconus and compare them with the kinetics of evolution of anterior keratometry.

Methods: One hundred nine eyes of 55 patients were prospectively enrolled and followed up every 3 months for at least 1 year. Forty-five corneal parameters were measured at each visit using a combined Placido-based and dual Scheimpflug imaging system.

Wavefront analysis after wavefront-guided myopic LASIK using a new generation aberrometer.

Purpose: To evaluate the short-term aberrometric outcomes of wavefront-guided LASIK for the correction of low to moderate myopia and myopic astigmatism using a new generation aberrometer (iDesign System; Abbott Medical Optics, Inc., Santa Ana, CA).

Methods: Charts of 92 eyes of 46 patients successively treated by wavefront-guided LASIK for myopia and/or myopic astigmatism were retrospectively reviewed at 3 months postoperatively.

Potential of FTIR spectroscopy for analysis of tears for diagnosis purposes.

It has been widely reported that the tear film, which is crucially important as a protective barrier of the eye, undergoes biochemical changes as a result of a wide range of ocular pathology. This tends to suggest the possibility of early detection of ocular diseases on the basis of biochemical analysis of tears. However, studies of tears by conventional methods of biomolecular and biochemical analysis are often limited by methodological difficulties.