Clinical and genetic studies for a cohort of patients with congenital stationary night blindness.

BACKGROUND: Congenital stationary night blindness (CSNB) is an inherited retinal disorder. Most of patients have myopia. This study aims to describe the clinical and genetic characteristics of fifty-nine patients with CSNB and investigate myopic progression under genetic cause. RESULTS: Sixty-five variants were detected in the 59 CSNB patients, including 32 novel and 33 reported variants. The most frequently involved genes were NYX, CACNA1F, and TRPM1. Myopia (96.61%, 57/59) was the most common clinical finding, followed by nystagmus (62.71%, 37/59), strabismus (52.54%, 31/59), and nyctalopia (49.15%, 29/59). An average SE of -7.73 ± 3.37 D progressed to -9.14 ± 2.09 D in NYX patients with myopia, from - 2.24 ± 1.53 D to -4.42 ± 1.43 D in those with CACNA1F, and from - 5.21 ± 2.89 D to -9.24 ± 3.16 D in those with TRPM1 during the 3-year follow-up; the TRPM1 group showed the most rapid progression. CONCLUSIONS: High myopia and strabismus are distinct clinical features of CSNB that are helpful for diagnosis. The novel variants identified in this study will further expand the knowledge of variants in CSNB and help explore the molecular mechanisms of CSNB.

Reduced coupling of global brain function and cerebrospinal fluid dynamics in Parkinson's disease.

Dysfunction of the glymphatic system, an intracranial clearance pathway that drains misfolded proteins, has been implicated in the onset of Parkinson's disease (PD). Recently, the coupling strength of global blood-oxygen-level-dependent (gBOLD) signals and cerebrospinal fluid (CSF) inflow dynamics have been suggested to be an indicator of glymphatic function. Using resting-state functional magnetic resonance imaging (MRI), we quantified gBOLD-CSF coupling strength as the cross-correlation between baseline gBOLD and CSF inflow signals to evaluate glymphatic function and its association with the clinical manifestations of PD. We found that gBOLD-CSF coupling in drug-naïve PD patients was significantly weaker than that in normal controls, but significantly stronger in patients less affected by sleep disturbances than in those more affected by sleep disturbances, based on the PD sleep scale. Furthermore, we collected longitudinal data from patients and found that baseline gBOLD-CSF coupling negatively correlated with the rate of change over time, but positively correlated with the rate of change in UPDRS-III scores. In conclusion, severe gBOLD-CSF decoupling in PD patients may reflect longitudinal motor impairment, thereby providing a potential marker of glymphatic dysfunction in PD.

A randomized trial evaluating efficacy of overminus lenses combined with prism in the children with intermittent exotropia.

BACKGROUND: To evaluate the efficacy of overminus lenses combined with prism spectacles in children of 3 to 6 years of age with intermittent exotropia (IXT). METHODS: Sixty patients with IXT were randomly assigned to the treatment and observation groups. Each group included 30 IXT children aged 3 to 6 years. The treatment group was prescribed overminus lenses of - 2.50 D incorporated with the 2 PD base-in prisms on each side. Ocular alignment, the status of binocular vision, as well as the refraction changes were carried out and followed at 1, 3, 6, and 12 months. A revised form of the Newcastle Control Score (NCS) was used to evaluate the patients' ability to control their IXT. RESULTS: After 12 months, the mean refractive error was 1.42 ± 1.25 D, and 1.43 ± 1.12 D for the observation and the treatment group, respectively (95% CI: - 0.61 to 0.62)); the mean exotropia control score was 5.72 ± 1.28 and 1.75 ± 1.18 in the observation and the treatment group, respectively (95% CI: - 4.63 to - 3.33); the mean near stereoacuity was 2.16 ± 0.42 log arcsec and 1.91 ± 0.26 log arcsec in the observation and the treatment group, respectively (95% CI: - 0.44 to - 0.06). CONCLUSIONS: In our randomized clinical trial, overminus spectacles with prism significantly improved the control of IXT and stereopsis, by reducing the angle of strabismus in children with IXT. This treatment does not appear to cause myopia, at least in the manner used this series. A further randomized trial is warranted to assess the effect of overminus spectacles with prism after the treatment has been discontinued. TRIAL REGISTRATION: This study adheres to CONSORT 2010 guidelines. Chinese Clinical Trial Registry, ChiCTR1900025243 . Registered 17 August 2019.

Effect of unilateral inferior oblique weakening on fundus torsion in bilateral eyes of children with congenital superior oblique palsy.

AIM: To study the change of torsion in both eyes after unilateral inferior oblique (IO) weakening on children with congenital superior oblique palsy (SOP). METHODS: This retrospective study enrolled all patients diagnosed with unilateral congenital superior oblique palsy (UCSOP) accompanied by inferior oblique overaction (IOOA). A total of 120 eyes of 60 patients were divided into group 1 (more extorted paretic eye) and group 2 (more extorted nonparetic eye). The degree of fundus torsion was evaluated before and 1mo after the IO weakening procedure. The torsion of the fundus was recorded by measuring the disk-foveal angle (DFA) using fundus photography. RESULTS: Group 1 included 26 cases and group 2 included 34 cases, thus the rate of extorsion was insignificantly higher in the nonparetic eye (P=0.10). The preoperative DFA in the paretic and nonparetic eyes was 13.21±5.95, 7.97±4.25 in group 1, and 4.65±3.79, 13.16±5.35 in group 2 (both P<0.001). The postoperative DFA in the paretic and nonparetic eyes was 8.57±4.87, 7.32±4.27 in group 1 (P=0.24), and 3.85±6.00 and 9.94±5.45 in group 2 (P<0.001). The amount of postoperative reduction of the DFA in the paretic and nonparetic eyes was 4.64±3.90, 0.65±0.76 in group 1 (P=0.002), and 0.80±0.81, 3.21±5.50 in group 2 (P=0.01). The difference in the amount of reduction of DFA in the more extorted eye in group 1 (paretic eye) vs group 2 (nonparetic eye) was insignificant (P=0.30). CONCLUSION: Excyclotorsion in the nonparetic eye has a similar probability in the paretic eye in UCSOP children, and weakening of the ipsilateral IO has a more obvious effect on the decrement of extorsion in the more extorted eye regardless of which eye is paretic.

Self-assembly of imidazolium-based rodlike ionic liquid crystals: transition from lamellar to micellar organization.

By using aryl-amination chemistry, a series of rodlike 1-phenyl-1H-imidazole-based liquid crystals (LCs) and related imidazolium-based ionic liquid crystals (ILCs) has been prepared. The number and length of the C-terminal chains (at the noncharged end of the rodlike core) and the length of the N-terminal chain (on the imidazolium unit in the ILCs) were modified and the influence of these structural parameters on the mode of self-assembly in LC phases was investigated by polarizing microscopy, differential scanning calorimetry, and X-ray diffraction. For the single-chain imidazole derivatives nematic phases (N) and bilayer SmA2 phases were found, but upon increasing the number of alkyl chains the LC phases were lost. For the related imidazolium salts LC phases were preserved upon increasing the number and length of the C-terminal chains and in this series it leads to the phase sequence SmA-columnar (Col)-micellar cubic (CubI /Pm3n). Elongation of the N-terminal chain gives the reversed sequence. Short N-terminal chains prefer an end-to-end packing of the mesogens in which these chains are separated from the C-terminal chains. Elongation of the N-terminal chain leads to a mixing of N- and C-terminal chains, which is accompanied by complete intercalation of the aromatic cores. In the smectic phases this gives rise to a transition from bilayer (SmA2) to monolayer smectic (SmA) phases. For the columnar and cubic phases the segregated end-to-end packing leads to core-shell aggregates. In this case, elongation of the N-terminal chains distorts core-shell formation and removes CubI and Col phases in favor of single-layer SmA phases. Hence, by tailoring the length of the N-terminal chain, a crossover from taper-shaped to polycatenar LC tectons was achieved, which provides a powerful tool for control of self-assembly in ILCs.

[Etiological analysis of ocular non-viral microbial isolates in children and their antibiotics susceptibility in vitro].

OBJECTIVE: To analyze the types, distribution characteristics and in vitro susceptibility of antibiotic agents of ocular non-viral microbial isolates in children. METHODS: Experimental research.785 specimens obtained from children below the age of 14 in Beijing Tongren Hospital during 1999 to 2004 were cultured and identified for bacterium, fungus and Acanthamoeba respectively at Beijing Institute of Ophthalmology. Microbial culture-positive rate, susceptibility patterns and the organisms distribution of positive cultures were retrospectively analyzed. The results were statistical analyzed by chi(2). RESULTS: Of the 785 specimens, 211 were culture positive. The percentage of positive culture was 26.88%. Of those positive cultures, 176 (83.41%) had pure bacterial infections, 32 (15.17%) had pure fungal infections, and 3 (1.42%) had pure cultures of Acanthamoeba. Of the 176 bacterial positive cultures, polymicrobial infection was present in 38 cases (33 bacterial, 5 fungal and bacterial). Of 214 bacterial isolates, the most common isolate was Neisseria gonorrhoeae (39/214, 18.22%), followed by Staphylococcus epidermidis (37/214, 17.29%), and Corynebacterium spp. (36/214, 16.82%). The most common fungal pathogen isolated was Fusarium spp. representing 25.00% (8/32) of all positive fungal cultures, followed by Aspergillus spp. (15.63%, 5/32). The sensitivity of tobramycin, norfloxacin, gentamicin, amikacin, ciprofloxacin, ofloxacin, rifampicin and levofloxacin of bacteria was 62.57%, 64.94%, 70.06%, 70.87%, 71.19%, 73.89%, 85.80% and 87.50%. Gram-positive isolates were susceptible to levofloxacin. Gram-negative isolates showed high susceptible to ciprofloxacin, ofloxacin and levofloxacin. The fungal isolates were most susceptible to natamycin, followed by terbinafine, but resistant to fluconazole. CONCLUSIONS: Bacteria are the most common pathogens in non-viral microbial eye infection in children. Neisseria gonorrhoeae, Staphylococcus epidermidis, and Corynebacterium spp. are the most common bacterial pathogens, which are highly susceptible to levofloxacin and rifampicin. Fusarium spp. and Aspergillus spp. are the most common fungal pathogens, which are highly susceptible to natamycin but resistant to fluconazole.

[Analysis on susceptibility of ocular bacterial pathogens to four kinds of fluoroquinolone].

OBJECTIVE: To assess the in vitro susceptibilities of ocular bacterial isolates to Gatifloxacin and other fluoroquinolones which are often used in ophthalmic treatment. METHODS: Non-randomized, non-comparative, retrospective study. Ocular bacterial isolates (n = 619) from Beijing Institute of Ophthalmology were tested for their susceptibilities to gatifloxacin, ciprofloxacin, ofloxacin and levofloxacin in vitro by the Kirby-Bauer disk diffusion method. RESULTS: The total number of ocular bacterial isolates was 619 from January, 2005 to December, 2006 including gram-positive cocci 372(60.1%), gram-negative cocci 7 (1.1%), gram-positive bacilli 60 (9.7%), gram-negative bacilli 177 (28.6%), other 3 (0.5%). The percentage of susceptibility in total ocular bacterial isolates to gatifloxacin, ciprofloxacin, ofloxacin and levofloxacin was 88.4%, 72.1%, 64.8% and 54.4%. The susceptibility of Staphylococcus species to gatifloxacin (89.9%) was significantly higher than ciprofloxacin (38.8%), ofloxacin (48.2%) and levofloxacin (61.6%). Streptococcus species showed significantly higher susceptibility to gatifloxacin (93.2%), levofloxacin (89.2%) and ofloxacin (87.8%) than ciprofloxacin (62.2%). The susceptibility of gram-positive bacilli to gatifloxacin (86.7%) was significantly higher than ciprofloxacin (58.3%); All above differences are significant (P < 0.0083). Gram-negative cocci, enteric bacilli family and Pseudomonas species have the equivalent susceptibility to gatifloxacin, ciprofloxacin, ofloxacin and levofloxacin (P > 0.05). CONCLUSIONS: Most of ocular bacterial are susceptible to gatifloxacin in vitro, especially gram-positive bacteria including Staphylococcus species, Streptococcus species and gram-positive bacilli.