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Introduction Choroideremia is a rare, X-linked disorder recognized by its specific ocular phenotype as a progressive degenerative retinopathy resulting in blindness. New therapeutic approaches, primarily based on genetic mechanisms, have emerged that aim to prevent the progressive vision loss. Areas covered This article will review the research that has progressed incrementally over the past two decades from mapping to gene discovery, uncovering the presumed mechanisms triggering the retinopathy to preclinical testing of potential therapies. Expert opinion While still in an evaluative phase, the introduction of gene replacement as a potential therapy has been greeted with great enthusiasm by patients, advocacy groups and the medical community.

Microperimetry testing in CHM shows high test-retest variation at the border of degeneration, which influences repeatability of MS measures. Volumetric measures from customized grids can improve reliability of both global and regional sensitivity assessment. Nevertheless, inherent test-retest variation of individual points needs to be taken into account when assessing potential functional decline and/or disease progression.

Patients with unilateral wet AMD display rod dysfunction in both their wet and dry AMD eyes. A subset of these patients display, in addition, bilateral cone dysfunction and delayed rod phototransduction activation, which may either reflect extensive morphologic change in advanced stages of AMD and/or represent a distinct phenotypic manifestation within the heterogeneous context of AMD as a disease.

Our results indicate that fibrin glue is a safe sealing material for lung PLB and serves to decrease the incidence and, in particular, the severity of pneumothorax, especially in high-risk patients.