Surgical outcomes of a congenital nystagmus family with a missense mutation in the FRMD7 gene.

Background: This study aimed to assess the effectiveness of surgery in the management of vertical compensatory head posture in patients with congenital nystagmus (CN) inherited in an X-linked manner in a Chinese family and determine the molecular pathogenesis of this disease. Methods: We studied 18 members belonging to four generations in a family with congenital nystagmus. Parks shift of neutral zone surgeries were performed on 7 patients with vertical compensatory head posture from the family. In addition, head posture, visual acuity, and stereopsis of the 7 patients were evaluated before and 2-years after the displacement surgeries. Gene alternations of the disease were researched by sequencing a candidate gene (FRMD7). From each generation of the family, one patient (including the proband) and one normal control were sampled for Sanger sequencing. Results: Over a median follow-up period of 2 years, the anomalous head posture, visual acuity, and stereopsis significantly improved postoperatively (P < 0.05). Sanger sequencing revealed that a variant c.586G > T (p.D196Y) in exon 7 of FRMD7 was co-segregated with the disease in this family. Conclusions: Parks shift of neutral zone surgeries relieved the vertical compensatory head posture and improved visual acuity and stereopsis in the primary position of CN patients. In this study, it was concluded that a missense mutation in exon 7 (c.586G > 7, p.D196Y) in FRMD7 was possibly responsible for the disease in this family.

Special clinical features with a novel mutation site of CHN1 gene in a Chinese family with Duane retraction syndrome.

PURPOSE: This study is to describe the special clinical and genotypic features of a Chinese family with variant types of Duane retraction syndrome and to present our experience on managing these cases. METHODS: Four individuals from one family were reviewed by ophthalmologic examinations, in which two affected and two unaffected individuals were revealed. MRI scans were performed on the two patients. Relevant gene mutations were screened by the next-generation sequencing technology and confirmed by Sanger sequencing technology. RESULTS: The six-year-old proband presented with special clinical features of severe horizontal gaze dysfunction, exotropia and mild scoliosis. His mother showed significantly limited binocular abductions, with retraction of eyeballs in adduction. From MRI scans, abducens nerves were not observed in both patients and the oculomotor nerve was slightly thin in the proband. The proband and his mother shared the same CHN1 gene mutation site (c. 62A>G; p.Y21C). Strabismus surgery was performed on the proband to correct the primary gaze exotropia.(NM_001822: exon3 or NM_001025201: exon4: c. 62A>G; p.Y21C). CONCLUSIONS: A novel CHN1 gene mutation was revealed from a Chinese family with Duane retraction syndrome. Remarkably, the proband and his mother presented different clinical features of ocular motility disorder. Strabismus correction surgery and amblyopia training helped to improve the appearance and visual function of the proband.

Long-term stability of PVDF-SiO2-HDTMS composite hollow fiber membrane for carbon dioxide absorption in gas-liquid contacting process.

Hybrid polyvinylidene fluoride-silica-hexadecyltrimethoxysilane (PVDF-SiO2-HDTMS) membranes were fabricated via a non-solvent-induced phase-inversion method to create stable hollow-fiber membranes for use in the membrane contact absorption of carbon dioxide (CO2). The surface properties, performance characteristics, and long-term performance stability of the prepared membranes were compared and analyzed. The outer surfaces of the prepared membranes were superhydrophobic because of the formation of rough nanoscale microstructures on the surfaces and their low surface free energy. The addition of inorganic nanoparticles improved the mechanical strength of the PVDF-SiO2-HDTMS. Long-term stable operation experiments were carried out with a mixed inlet gas (CO2/N2 = 19/81, v/v) at a flow rate of 20 mL/min. The absorbent liquid in these experiments was 1 mol/L diethanolamine (DEA) at a flow rate of 50 mL/min. The mass transfer flux of CO2 through the PVDF-SiO2-HDTMS membrane decreased from an initial value of 2.39 × 10-3 mol/m2s to 2.31 × 10-3 mol/m2s, a decrease of 3% after 20 days. The addition of highly stable and hydrophobic inorganic nanoparticles prevented pore wetting and structural damage to the membrane. The PVDF-SiO2-HDTMS membrane was found to have excellent long-term stable performance in absorbing CO2.

Vision function of pseudophakic eyes with posterior capsular opacification under different speed and spatial frequency.

PURPOSE: To investigate the characteristics of dynamic visual acuity (DVA) and contrast sensitivity (CS) in pseudophakic patients with posterior capsular opacification (PCO). METHODS: Fifty-four eyes (36 patients) with PCO planned for laser capsulotomy were recruited. They underwent examinations of static visual acuity (SVA), DVA, CS and optical quality analysis (OQAS) before and one week after the laser treatment. Improvements in each index after laser treatment were analyzed. The visual quality of patients with good initial vision was studied separately. RESULTS: SVA, DVA and CS all significantly increased after capsulotomy (P < 0.05). Postoperative improvements in DVA were higher than in SVA, but they decreased when the speed increased. DVA at 15 dps gained the most improvement after capsulotomy. DVA at all analyzed speeds was significantly lower than SVA (P = 0.000). There was a significant speed-dependent decrease in DVA at lower speeds compared with higher speeds. The postoperative improvements in CS decreased when the spatial frequency was increased. The CS at the lower frequencies of 3 cpd and 6 cpd was the most improved after capsulotomy. CS was much lower at high frequencies (p < 0.05). There was a significant decrease in CS at higher spatial frequencies compared with lower frequencies. DVA improvements were correlated with CS improvements at medium spatial frequencies and with objective scattering index and Strehl ratio. The CS at all frequencies significantly improved for patients with good initial vision. CONCLUSION: PCO could impair dynamic vision function, but CS was a more sensitive indication of visual complaints in patients with slight PCO.

Effect of lutein and zeaxanthin on macular pigment and visual function in patients with early age-related macular degeneration.

PURPOSE: To determine whether supplementation with lutein and zeaxanthin improves macular pigment and visual function in patients with early age-related macular degeneration (AMD). DESIGN: Randomized, double-masked, placebo-controlled trial. PARTICIPANTS: Participants with probable AMD who were 50 to 79 years of age were screened for study eligibility from the local communities. One hundred eight subjects with early AMD were recruited. INTERVENTION: Early AMD patients were assigned randomly to receive 10 mg/day lutein (n = 27), 20 mg/day lutein (n = 27), 10 mg/day lutein plus 10 mg/day zeaxanthin (n = 27); or placebo (n = 27) for 48 weeks. Macular pigment optical density (MPOD) and visual function variables were assessed at baseline, 24 weeks, and 48 weeks. MAIN OUTCOME MEASURES: The primary outcome was MPOD. Secondary outcomes were visual function variables including best-corrected visual acuity (BCVA), contrast sensitivity (CS), photorecovery time, and Amsler grid testing results. RESULTS: Macular pigment optical density increased significantly by a mean ± standard error of 0.076 ± 0.022 density unit in the 20-mg lutein group and 0.058 ± 0.027 density unit in the lutein and zeaxanthin group during 48 weeks. There was a significant dose-response effect for lutein supplementation, and the changes in MPOD from baseline to 48 weeks were correlated negatively with baseline MPOD in all active treatment groups (r = -0.56; P<0.001). At 48 weeks, a trend toward improvement was seen in BCVA, and there was a significant between-group difference in CS at 3 and 6 cycles/degree between the 20-mg lutein group and the placebo group. The increase in MPOD related positively to the reduction in the logarithm of the minimum angle of resolution BCVA (r = -0.31; P<0.01) and the increases in CS at 4 spatial frequencies (r ranging from 0.26 to 0.38; all P<0.05). CONCLUSIONS: Among patients with early AMD, supplementation with lutein and zeaxanthin improved macular pigment, which played a causative role in boosting visual function and might prevent the progression of AMD. Future studies are required to evaluate the effect of these carotenoids on the incidence of late AMD.

Improvement of retinal function in early age-related macular degeneration after lutein and zeaxanthin supplementation: a randomized, double-masked, placebo-controlled trial.

PURPOSE: To examine the effects of lutein and zeaxanthin supplementation on retinal function using multifocal electroretinograms (mfERG) in patients with early age-related macular degeneration (AMD). DESIGN: Randomized, double-masked, placebo-controlled trial. METHODS: One hundred eight subjects with early AMD were randomly assigned to receive 10 mg/d lutein (n = 27), 20 mg/d lutein (n = 27), 10 mg/d lutein plus 10 mg/d zeaxanthin (n = 27), or placebo (n = 27) for 48 weeks. Thirty-six age-matched controls without AMD were also enrolled to compare baseline data with early AMD patients. MfERG responses and macular pigment optical densities (MPODs) were recorded and analyzed at baseline and at 24 and 48 weeks. RESULTS: There were significant reductions in N1P1 response densities in ring 1 to ring 3 in early AMD patients compared with the controls (P < .05), whereas neither N1P1 response densities in ring 4 to ring 6 nor P1 peak latencies significantly changed. After 48-week supplementation, the N1P1 response densities showed significant increases in ring 1 for the 20 mg lutein group and for the lutein and zeaxanthin group, and in ring 2 for the 20 mg lutein group. The increases in MPOD related positively to the increases in N1P1 response density in ring 1 and ring 2 for nearly all active treatment groups. N1P1 response densities in ring 3 to ring 6 or P1 peak latencies in all rings did not change significantly in any group. CONCLUSION: Early functional abnormalities of the central retina in the early AMD patients could be improved by lutein and zeaxanthin supplementation. These improvements may be potentially attributed to the elevations in MPOD.

[Identification of a novel PHOX2A gene mutation in a Chinese family with congenital fibrosis of extraocular muscles type 2].

OBJECTIVE: To investigate potential mutation of PHOX2A (or ARIX) gene in a Chinese family affected with congenital fibrosis of extraocular muscles tyep 2 (CFEOM2). METHODS: Genomic DNA was obtained from affected and unaffected members of the family. With an ABI PRSIM Linkage Mapping Set-MD10 kit, selected markers flanking the PHOX2A locus were used for linkage analysis. Exons of PHOX2 gene were amplified and sequenced. A total of 100 normal subjects were recruited as controls. RESULTS: Genetic linkage was found at 11q13 between D11S4151 and D11S1320 and the PHOX2A gene. DNA sequencing has identified a heterozygous mutation in the exon 2 of the gene (227T to G, N76K). The same mutation was not found in the unaffected and 100 normal controls. CONCLUSION: A mutation of the PHOX2A gene 227T to G is responsible for the onset of congenital fibrosis of extraocular muscles type 2 in this Chinese family.