Importance Inherited retinal dystrophies (IRDs) are a group of monogenic diseases, one of the leading causes of blindness. Background Introducing a comprehensive genetic testing strategy by combining single gene Sanger sequencing, next‐generation sequencing (NGS) including whole exome sequencing (WES), and a specific hereditary eye disease enrichment panel (HEDEP) sequencing, to identify the disease‐causing variants of 800 Chinese probands affected with non‐syndromic IRDs. Design Retrospective analysis. Participants Eight hundred Chinese non‐syndromic IRDs probands and their families. Methods A total of 149 patients were subjected to Sanger sequencing. Of the 651 patients subjected to NGS, 86 patients underwent WES and 565 underwent HEDEP. Patients that likely carried copy number variations (CNVs) detected by HEDEP were further validated by multiplex ligation‐dependent probe amplification (MLPA) or quantitative fluorescence PCR (QF‐PCR). Main Outcome Measures The diagnostic rate. Results (Likely) pathogenic variants were determined in 481 cases (60.13% detection rate). The detection rates of single gene Sanger sequencing, WES and HEDEP were 86.58%, 31.40% and 56.99%, respectively. Approximately 11.64% of 481 cases carried autosomal dominant variants, 72.97% carried AR variants and 15.39% were found to be X‐linked. CNVs were confirmed by MLPA or QF‐PCR in 17 families. Fourteen genes that each caused disease in 1% or more of the cohort were detected, and these genes were collectively responsible for disease in almost one half (46.38%) of the families. Conclusions and Relevance Sanger sequencing is ideal to detect pathogenic variants of clinical homogeneous diseases, whereas NGS is more appropriate for patients without an explicit clinical diagnosis.

To systematically review studies of managing meibomian gland dysfunction (MGD) with azithromycin and pool clinical outcomes to show its effectiveness. Eligible studies were retrieved from five main electronic databases. Symptom score was the primary outcome, while clinical signs and objective measurements were secondary outcomes. Pooled rates for adverse events were also calculated. Improvements in each outcome after administering either oral azithromycin (OA) or topical azithromycin (TA) were pooled and measured by standard mean difference (SMD) to show the overall effectiveness. Then the effectiveness was sub-grouped by TA and OA. In addition, pooled outcomes after administering TA and oral doxycycline (OD) were compared with assess their effectiveness. Finally, 18 eligible studies were included. The overall pooled symptom scores were significantly reduced after administering both TA and OA [P < 0.0001; SMD = 1.54 (95% CI: 1.15-1.92)]. Similarly, the overall combined eyelid signs, plugging of the meibomian gland, meibum quality, and tear secretion were also distinctly improved. However, significant improvements for tear break-up time (TBUT) and corneal staining (CS) were achieved by TA (TBUT: P = 0.02; CS: P = 0.02) but not by OA (TBUT: P = 0.08; CS: P = 0.14). The pooled adverse event rates for TA and OA were 25% and 7%, respectively. Moreover, TA was comparable to OD to treat MGD regarding symptom score, TBUT and tear secretion. This study showed that MGD could be treated effectively with oral or topical azithromycin by improving symptoms, clinical signs, and stabilization of tear film. Topical azithromycin seemed to be superior over oral azithromycin or doxycycline in improving the quality of tear film in the short term.

No abstract