Accuracy of diagnostic testing in primary ciliary dyskinesia.

Diagnosis of primary ciliary dyskinesia (PCD) lacks a "gold standard" test and is therefore based on combinations of tests including nasal nitric oxide (nNO), high-speed video microscopy analysis (HSVMA), genotyping and transmission electron microscopy (TEM). There are few published data on the accuracy of this approach.Using prospectively collected data from 654 consecutive patients referred for PCD diagnostics we calculated sensitivity and specificity for individual and combination testing strategies. Not all patients underwent all tests.HSVMA had excellent sensitivity and specificity (100% and 93%, respectively). TEM was 100% specific, but 21% of PCD patients had normal ultrastructure. nNO (30 nL·min(-1) cut-off) had good sensitivity and specificity (91% and 96%, respectively). Simultaneous testing using HSVMA and TEM was 100% sensitive and 92% specific.In conclusion, combination testing was found to be a highly accurate approach for diagnosing PCD. HSVMA alone has excellent accuracy, but requires significant expertise, and repeated sampling or cell culture is often needed. TEM alone is specific but misses 21% of cases. nNO (≤30 nL·min(-1)) contributes well to the diagnostic process. In isolation nNO screening at this cut-off would miss ∼10% of cases, but in combination with HSVMA could reduce unnecessary further testing. Standardisation of testing between centres is a future priority.

Influence of the vitreomacular interface on the efficacy of intravitreal therapy for uveitis-associated cystoid macular oedema.

PURPOSE To evaluate the effect of the vitreomacular interface (VMI) on treatment efficacy of intravitreal therapy in uveitic cystoid macular oedema (CME). METHODS Retrospective analysis of CME resolution, CME recurrence rate and monthly course of central retinal thickness (CRT), retinal volume (RV) and best corrected visual acuity (BCVA) after intravitreal injection with respect to the VMI configuration on spectral-domain OCT using chi-squared test and repeated measures anova adjusted for confounding covariates epiretinal membrane, administered drug and subretinal fluid. RESULTS Fifty-nine eyes of 53 patients (mean age: 47.4 ± 16.9 years) were included. VMI status had no effect on complete CME resolution rate (p = 0.16, corrected p-value: 0.32), time until resolution (p = 0.09, corrected p-value: 0.27) or CME relapse rate (p = 0.29, corrected p-value: 0.29). Change over time did not differ among the VMI configuration groups for BVCA (p = 0.82) and RV (p = 0.18), but CRT decrease was greater and faster in the posterior vitreous detachment (PVD) group compared to the posterior vitreous attachment (PVA) and vitreous macular adhesion (VMA) groups (p = 0.04). Also, the percentage of patients experiencing a ≥ 20% CRT thickness decrease after intravitreal injection was greater in the PVD group (83%) compared to the VMA (64%) and the PVA (16%) group (p = 0.027), however, not after correction for multiple testing (corrected p-value: 0.11). CONCLUSION The VMI configuration seems to be a factor contributing to treatment efficacy in uveitic CME in terms of CRT decrease, although BCVA outcome did not differ according to VMI status.