Objective To observe the clinical features, phenotypes and genotypes in a Chinese family with choroideremia (CHM). Methods A Chinese four-generation family (15 members) with CHM, including 5 patients (4 males/1 female), 2 female carriers and 8 healthy members, was enrolled in this study. Initially all family members underwent best corrected visual acuity (BCVA), indirect ophthalmoscopy, fundus fluorescein angiography, optical coherence tomography (OCT), visual field and full view electroretinogram (ERG). BCVA was followed up for 3 years. Venous blood samples were collected, and all of the 15 coding exons and flanking intron regions were amplified in the proband by polymerase chain reaction followed by direct sequencing. Protein structure was modeled based on the protein data bank and mutations in DeepView v4.0.1 to predict the effect of the mutations. A total of 180 healthy volunteers were enrolled as control group to matching CHM gene sequences. Results The visual acuity (VA) of 3/4 adult male patients began to decrease at less than 10, 10 and 30 years old, the average BCVA was 0.43. There were characteristic signs and symptoms of CHM including narrow visual field, extinguished rod and cone response in ERG, disappeared junction line and intermediate line of photoreceptor inner segment/outer segment on OCT. After 3 years, the mean BCVA decreased to 0.11. The BCVA of one young male patient was 1.0 in both eyes with minor changes fundus and visual field. The VA of the female patient began to decrease at 50 years old, her BCVA of two eyes were 0.5 and 0.25, respectively. The fundus changes were typical of CHM, with relative scotomas in the peripheral visual field of OD, and big scotomas in the OS. After 3 years, her mean BCVA decreased to 0.2. Of 2 female carriers, one had minor fundus changes (patches of pigmentary deposits, atrophy spots of retinal pigment epithelium cells), and the other was normal. A novel heterozygous c.1837G＞A mutation in exon 15 of CHM was detected in the proband, which resulted in the substitution of serine by proline at codon 613 (p.D613N). Based on molecular modeling, the misfolded protein caused by the mutation might destabilize the structure of the helix that potentially could affect the global stability of the Rep-1 protein. Conclusions A novel c.1837G＞A (p.D613N) mutation may be the causative mutation for CHM in this family. Female CHM carriers may have some signs and symptoms.
Objective To observe the functional and morphological changes of macular after panretinal photocoagulation（PRP）in the patients with diabetic retinopathy（DR）.Methods A total of 57 eyes of 34 patients with DR undergoing PRP were enrolled in this prospective and self-reflection study. Comparatively analyze the changes of the best visual acuity（BCVA）, optical coherence tomography (OCT) and multi-focal electroretinography (mfERG) before PRP,20 days, 3 months and more than 9 months after PRP. Statistical analyses were performed by wilcoxon, chisquare, Dunnett-t, LSD-t tests and spearman related analyses. The changes of macular function and foveal retinal thickness before and after PRP were comparatively analyzed.Results BCVA of all patients reduced at 9 months after PRP（P=0.022）.The amplitude density of mfERG P1 of ring 2 decreased at 20 days after PRP（P=0.039）,then recovered at 3 months and decreased again at 9 months（P=0.014）.The amplitude density of mfERG P1 of ring 3-5 decreased at 20 days,3 months and more than 9 months after PRP（20 days: ring 3: P=0.000,ring 4: P=0.001, ring 5: P=0.000；3 months: ring 3:P=0.000, ring 4: P=0.006, ring 5: P=0.001; more than 9 months: ring 3: P=0.000,ring 4: P=0.000, ring 5: P=0.000）. The amplitude density of mfERG P1 of ring 1 was significantly lower at 9 months after PRP（P=0.050）. The foveal retinal thickness increased at 20 days after PRP(P=0.007), then recovered at 3 months or later. Cystoid macular degeneration was found in 6 eyes(10.5%) at 20 days after PRP.Conclusions After the treatment of PRP, there were some extend reduction of the macular function, a transient increase on foveal retinal thickness. Combined mfERG and OCT can be a comprehensively and objectively assessment of macular function and morphology.
Rapid serial visual presentation (RSVP) is a type of psychological visual stimulation experimental paradigm that requires participants to identify target stimuli presented continuously in a stream of stimuli composed of numbers, letters, words, images, and so on at the same spatial location, allowing them to discern a large amount of information in a short period of time. The RSVP-based brain-computer interface (BCI) can not only be widely used in scenarios such as assistive interaction and information reading, but also has the advantages of stability and high efficiency, which has become one of the common techniques for human-machine intelligence fusion. In recent years, brain-controlled spellers, image recognition and mind games are the most popular fields of RSVP-BCI research. Therefore, aiming to provide reference and new ideas for RSVP-BCI related research, this paper reviewed the paradigm design and system performance optimization of RSVP-BCI in these three fields. It also looks ahead to its potential applications in cutting-edge fields such as entertainment, clinical medicine, and special military operations.