The aim of the present study was to compare the clinical outcomes of conventional corneal collagen cross-linking (CXL) and pulsed-light accelerated CXL (pl-ACXL) in the eyes of patients with progressive keratoconus. A total of 72 eyes with progressive keratoconus in 58 patients were equally divided into the CXL and pl-ACXL treatment groups. The CXL treatment was performed using the UVX 1000 system with 0.1% riboflavin solution in 20% dextran presoak for 30 min, and 3 mW/cm2 ultraviolet A (UVA) light for 30 min. The pl-ACXL group was treated with the KXL system using 0.1% riboflavin with HPMC presoak for 10 min, followed by 8 min (1 sec on/1 sec off) of 30 mW/cm2 UVA light. Patients were evaluated according to the uncorrected distance visual acuity (UDVA), corrected DVA (CDVA), refraction, maximum keratometry (Kmax), endothelial cell density (ECD), anterior segment optical coherence tomography and in vivo confocal microscopy. The follow-up period was 12 months. Transient haze was observed in 17 eyes (47.22%) in the CXL group and 8 eyes (22.22%) in the pl-ACXL group at 1 month postoperatively. There were no significant postoperative differences in the astigmatism, manifest refraction spherical equivalent, ECD or thinnest corneal thickness. By contrast, UDVA, CDVA and Kmax presented significant improvement at 12 months postoperatively in the two groups. The demarcation line depth was 284.94±33.29 µm in the CXL group, which was significantly deeper in comparison with that in the pl-ACXL group (201.64±27.72 µm; P<0.01) at 1 month postoperatively. In vivo confocal microscopy revealed keratocyte apoptosis and stromal edema at 1 month postoperatively, which gradually recovered towards the normal status after 12 months in the two groups. There were no apparent changes in the posterior stroma and endothelium in either group. The results of the present study revealed that CXL and pl-ACXL were safe and effective procedures in stabilizing the progression of keratoconus. The CXL technique offers more effective visual and topographic outcomes compared with pl-ACXL, while pl-ACXL ensures shorter treatment time and reduced microstructural damage.

Background Point and copy number variant mutations in the PRRT2 gene have been identified in a variety of paroxysmal disorders and different types of epilepsy. In this study, we analyzed the phenotypes and PRRT2‐related mutations in Chinese epilepsy children. Methods A total of 492 children with epilepsy were analyzed by whole exome sequencing (WES) and low‐coverage massively parallel CNV sequencing (CNV‐seq) to find the single nucleotide variants and copy number variations (CNVs). And quantitative polymerase chain reaction was utilized to verify the CNVs. Their clinical information was followed up. Results We found PRRT2‐related mutations in 19 patients (10 males and nine females, six sporadic cases and 13 family cases). Twelve point mutations, four whole gene deletion, and three 16p11.2 deletions were detected. The clinical features of 39 patients in 19 families included one early childhood myoclonic epilepsy (ECME), one febrile seizure (FS), two infantile convulsions with paroxysmal choreoathetosis (ICCA), six paroxysmal kinesigenic dyskinesias (PKD), 12 benign infantile epilepsy (BIE), and 17 benign familial infantile epilepsy (BFIE). All patients had normal brain MRI. Interictal EEG showed only one patient had generalized polyspike wave and five patients had focal transient discharges. Focal seizures originating in the frontal region were recorded in one patient, two from the temporal region, and two from the occipital region. Most patients were treated effectively with VPA or OXC, and the child with myoclonic seizures was not sensitive to antiepileptic drugs. Conclusion PRRT2 mutations can be inherited or de novo, mainly inherited. The clinical spectrum of PRRT2 mutation includes BIE, BFIE, ICCA, PKD, FS, and ECME. The PRRT2‐related mutations contained point mutation, whole gene deletion and 16p11.2 deletions, and large microdeletion mutations mostly de novo. It is the first report of PRRT2 mutation found in ECME. Our report expands the mutation and clinical spectrum of PRRT2‐related epilepsy.

Mitochondria are the energy factories of eukaryotic cells, which contain thousands of proteins that maintain their specific functions. These proteins are encoded by mitochondrial DNA and the nuclear genome. Pathogenic mutations in these mitochondrial genes can cause multiple serious diseases (Scheffer et al., 2017; Thompson et al., 2020). Mitochondrial DNA encodes its own mRNA, rRNA, and tRNA, to synthesize some of the proteins it needs. Proteins encoded by mitochondrial DNA are involved in the composition of oxidative phosphorylation system complexes, so any gene mutation that affects the replication, transcription, and translation of mitochondrial DNA may cause oxidative phosphorylation deficiency (de Laat, Rodenburg, & Smeitink, 2014). Mitochondrial translation is crucial for maintaining

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