AimsTo determine the accuracy of diagnosing microbial keratitis by masked medical and non-medical observers using the Heidelberg Retina Tomograph II / Rostock Cornea Module in vivo confocal microscope. MethodsConfocal images were selected for 62 eyes with culture or biopsy proven infections. ResultsThe highest sensitivity and specificity values were 55.8% and 84.2%, and the lowest sensitivity and specificity values were 27.9% and 42.1%. The highest positive and negative likelihood ratios were 2.94 and 0.59, respectively. Agreement values were:fair to moderate (κ, 0.22-0.44) for reference standard versus observer diagnosis, moderate to good in intra-observer variability (repeatability, κ 0.56-0.88), and poor to moderate in inter-observer variability (reproducibility, κ , 0.15-0.47). The correct 4 diagnosis was associated with duration of disease for Acanthamoeba keratitis (r s = 0.60, p = 0.001). Conclusions

A diagnostic delay of less than 18 days between onset of symptoms and start of anti-amoebic treatment results in a better final VA after medical treatment and obviates the need for urgent and elective penetrating keratoplasty.

FOXC1 and PITX2 genetic defects explain 40% of our large ASD cohort. The current spectrum of intragenic FOXC1 and PITX2 mutations was extended considerably, the identified copy number changes were fine mapped, the smallest FOXC1 and PITX2 deletions reported so far were identified, and the need for dedicated copy number screening of the FOXC1 and PITX2 genomic landscape was emphasized. This study is unique in that sequence and copy number changes were screened simultaneously in both genes.

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