Achromatopsia is an autosomal recessively inherited visual disorder that is present from birth and that features the absence of color discrimination. We here report the identification of five independent families with achromatopsia that segregate protein-truncation mutations in the GNAT2 gene, located on chromosome 1p13. GNAT2 encodes the cone photoreceptor-specific alpha-subunit of transducin, a G-protein of the phototransduction cascade, which couples to the visual pigment(s). Our results demonstrate that GNAT2 is the third gene implicated in achromatopsia.

Both techniques, NPDS and PT, without enhancements (ie, implants or antimetabolites) control IOP efficaciously at our end point. Phacoemulsification combined with penetrating and non-penetrating procedures does not seem to interfere with final results. When a lower target IOP and probability of success over time are considered, PT, single or combined, exhibits a better trend. PT, therefore, could be more suitable for higher IOP levels or longer life expectancies.

No abstract

GUCY2D is a major gene responsible for progressive autosomal dominant cone degeneration. All identified mutations localize to codon 838. Haplotype analysis indicates that in most cases these mutations arise independently. Thus, codon 838 is likely to be a mutation hotspot in the GUCY2D gene.

The aim of the study was to assess the long-term eYcacy and safety of InXiximab therapy in the treatment of patients with Behçet's disease refractory to standard immunosuppressive agents. Twenty-one patients that did not respond to corticosteroids and to at least one immunosuppressant (cyclosporin, methotrexate, azathioprine, cyclophosphamide) for the presence of ocular and/or CNS involvement were enrolled. Eighteen patients completed the study up to 54 weeks. Stable doses of prednisone (<10 mg/day) were permitted, immunosuppressants were discontinued at least 4 weeks prior baseline visit. The patients received three infusions of 5 mg/kg InXiximab (at weeks 0, 2 and 6) and then infusions of 5 mg/kg InXiximab every 8 weeks. At each visit data on clinical symptoms, response to therapy and adverse events were collected. The primary outcome of interest was to assess the clinical eYcacy (total or partial recovery) of inXiximab. Secondary end points were to evaluate quality of life and to monitor the safety of the drug. Eighteen patients achieved a total remission. Two patients achieved a partial remission and relapsed after 3 months from discontinuation of therapy. InXiximab was well tolerated throughout the study. A case of non-Hodgkin lymphoma was observed within 6 months.Minor side eVects were headache, dizziness, tachycardia that regressed spontaneously and did not entail interruption. Anti-nuclear antibodies were not detected during the period of observation.