Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.

Posterior microphthalmos (MCOP) is a rare isolated developmental anomaly of the eye characterized by extreme hyperopia due to short axial length. The population of the Faroe Islands shows a high prevalence of an autosomal-recessive form (arMCOP) of the disease. Based on published linkage data, we refined the position of the disease locus (MCOP6) in an interval of 250 kb in chromosome 2q37.

Intravitreal bevacizumab for the treatment of choroidal neovascularization secondary to angioid streaks: one year of follow-up.

Purpose: To evaluate the efficacy and safety of intravitreal bevacizumab at one year follow-up, for the treatment of choroidal neovascularization (CNV) associated with angioid streaks.

Methods: A retrospective case series of eighteen eyes of 17 patients with CNV secondary to angioid streaks treated with intravitreal bevacizumab between October 2006 and May 2008. Ophthalmic evaluation including best corrected visual acuity (BCVA), slit lamp biomicroscopic examination, optical coherence tomography (OCT) and fluorescein angiography, was performed before and after treatment.

Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.

Complete achromatopsia is a rare autosomal recessive disease associated with CNGA3, CNGB3, GNAT2 and PDE6C mutations. This retinal disorder is characterized by complete loss of color discrimination due to the absence or alteration of the cones function. The purpose of the present study was the clinical and the genetic characterization of achromatopsia in a large consanguineous Tunisian family.

Intravitreal injection of triamcinolone combined with bevacizumab for choroidal neovascularization associated with large retinal pigment epithelial detachment in age-related macular degeneration.

Purpose: To discuss the effect and outcome of a combined intravitreal triamcinolone acetonide (IVTA) injection with intravitreal bevacizumab (IVB) in treating choroidal neovascularization (CNV) associated with large retinal pigment epithelial detachment (PED) in age-related macular degeneration (AMD).

Design: Prospective, consecutive, observational case series.

Methods: Seven eyes (five patients) with CNV associated with large PED in AMD were treated by IVTA (4 mg/ 0.