Tilted disc syndrome.

BACKGROUND: Tilted disc syndrome (TDS) has a varied morphological appearance which can be difficult to differentiate from acquired optic nerve pathology. In addition, there are visual deficits and potential complications associated with this syndrome. Failure to recognize features of the TDS frequently leads to unnecessary medical evaluation or improper examination for possible associated ocular complications. METHODS: The literature is reviewed to examine the embryonic developmental defects that create TDS. Characteristic ophthalmoscopic features of the disc, visual field deficits, electrofunctional abnormalities, retinal pigment epithelial and choroidal hypoplasia, refractive error, and choroidal neovascular development are examined from a clinical standpoint. RESULTS: The literature clearly identifies visual deficits and ocular complications, which must be understood in the context of TDS. CONCLUSIONS: TDS is a congenital anomaly that has visual deficits and an appearance that can mimic serious neurological disease. Also, there are potential vision-threatening complications that are typically not associated with a congenital anomaly.

Prognostic significance of anaplastic lymphoma kinase (ALK) protein expression in adults with anaplastic large cell lymphoma.

Anaplastic large cell lymphoma (ALCL) is an aggressive lymphoma that is frequently associated with the t(2;5)(p23;q35), resulting in expression of a fusion protein, nucleophosmin-anaplastic lymphoma kinase (NPM-ALK), which can be detected by either monoclonal or polyclonal antibodies to the ALK protein. The clinical features of adults with ALCL are incompletely described, and the prognostic factors that are useful for predicting survival remain unclear. This report describes the clinical and laboratory findings in 70 adults with systemic ALCL who were treated with curative intent. We attempted to identify the clinical and pathological factors of prognostic importance, including the International Prognostic Index (IPI), immunophenotype, and expression of the ALK protein. The median age of the patients was 49 years (range, 15 to 75). There were 26 women and 44 men with a median follow-up of 50 months for living patients. Advanced stage was present in 56% and B symptoms were noted in 70% of the patients. Immunostains showed that 46% of the cases had a T-cell phenotype, 36% a null phenotype, and 18% a B-cell phenotype. The expression of ALK protein was found in 51% of the cases. The IPI factors were evenly distributed between the ALK+ and ALK- groups, except that the ALK+ patients were younger (median age, 30 v 61 years; P <.002). The ALK+ cohort included cases with null (44%), T-cell (42%), and B-cell (14%) phenotypes. All 10 cases with cytogenetic or molecular evidence of a t(2;5) were ALK+. The 5-year overall survival (OS) of the entire cohort was 65%. The 5-year OS of the ALK+ and ALK- cases was 79% and 46%, respectively (P <.0003). Analysis of only the T-cell/null cases (n = 57) showed a 5-year OS of 93% for the ALK+ cases and only 37% for the ALK- cases (P <.00001). Univariate analysis of the clinical features showed that age