Bilateral axial length growth patterns of myopic anisometropes undergoing sequential monocular to binocular orthokeratology treatment.

PURPOSE: To investigate bilateral axial length (AL) growth patterns and interactions of myopic eyes in anisometropic children during unilateral orthokeratology (OK) treatment in their singularly myopic eyes (Eyes1), followed by bilateral treatment when their second eyes (Eyes2) developed myopia. METHODS: This study enrolled 94 eyes from 47 anisometropes (20 males). All patients had undergone monocular OK treatment for > 1 year followed by binocular treatment for > 1 year. Axial growth of Eyes1 and Eyes2 during the first year of monocular treatment (Stage 1), average annual axial elongation during the monocular treatment period, and axial elongation during the first year of binocular treatment (Stage 2) were respectively termed: S1E1 and S1E2, Annual E1 and Annual E2, and S2E1 and S2E2. Associations between AL growth and age, sex, interval time, and ocular parameters were analysed using correlation and generalised estimating equation (GEE) analysis. RESULTS: During the monocular period, Eyes1 showed less AL growth (S1E1: 0.05 ± 0.18 mm; Annual E1: 0.05 ± 0.21 mm) than Eyes2 (S1E2: 0.51 ± 0.24 mm; Annual E2: 0.52 ± 0.25 mm) (all p < 0.001). During the binocular period, there was no significant difference between S2E1 and S2E2(0.21 ± 0.14 mm v. 0.19 ± 0.17 mm, p = 0.951). Between monocular and binocular periods, Eyes1 had significantly higher S2E1 compared to S1E1 and Annual E1 (both p < 0.001), and Eyes2 had significantly lower S2E2 than S1E2 and Annual E2 (both p < 0.001). In the GEE model, spherical equivalent refraction (SER) and between periods interval time showed independently significant associations with AL growth after adjusting for age and sex. CONCLUSION: Orthokeratology can significantly control AL growth in unilateral myopia. AL growth of the initial myopic OK-treated eyes accelerated relative to the monocular period when contralateral eyes developed myopia and assumed OK treatment. During the binocular treatment phase, OK lenses showed moderate and comparable effects on AL retardation across both eyes.

Intra-Anterior Chamber Injection of Ranibizumab in Advanced Pediatric Vitreoretinal Diseases.

Importance: Anti-vascular endothelial growth factor (VEGF) treatment through intravitreal or subretinal administrations has been proven effective for VEGF-driven pediatric vitreoretinal diseases but are not feasible for advanced cases, such as shallow traction retinal detachments or peripheral circumferential retinal detachments which adhere to the lens. Intra-anterior chamber injection (IAcI) of anti-VEGF may be a viable alternative in such cases but needs evaluation. Objective: To investigate the effects and safety of IAcI of anti-VEGF to treat VEGF-driven pediatric vitreoretinal diseases. Design, Setting, and Participants: This was a retrospective observational case series study conducted at Xinhua Hospital, affiliated with Shanghai Jiao Tong University School of Medicine in China. The study included 14 eyes of 13 children diagnosed with vitreoretinal disease exhibiting elevated vascular activity between January and August 2023. Intervention: IAcI with ranibizumab. Main Outcomes and Measures: Retinal vascular abnormalities, vitreous hemorrhage resolution, and complications 1 month and 3 months after injection. Results: Of 13 patients included in this study, 12 were male. The mean age was 4.6 years (range, 1 month to 9 years). Six patients were diagnosed with familial exudative vitreoretinopathy, 4 with morning glory syndrome, 1 with retinopathy of prematurity, and 2 with chronic retinal detachments of unknown causes. At 1-month postoperative follow-up, vascular activity had decreased in 14 of 14 eyes. At 3-month follow-up, vascular activity had resolved in 7 of 14 eyes, persisted in 6 of 14 eyes, and reactivated in 1 of 14 eyes. On final observation, no complications were reported. Conclusions and Relevance: These findings support the possibility of treatment using IAcI with ranibizumab to decrease retinal vascular abnormalities in familial exudative vitreoretinopathy or retinopathy of prematurity or related conditions, but further studies are needed to understand more precise benefits and risks. This approach might be considered in cases where intravitreal or subretinal injection are not feasible, recognizing the limitations of these findings and that longer-term outcomes still need to be monitored.

Assessing the efficacy of myopia control in monocular orthokeratology treated unilateral myopic children.

PURPOSE: To investigate the efficacy of myopia control by comparing the orthokeratology (Ortho-K) treated eyes and the emmetropic contralateral eyes in unilateral myopic children, and to identify the inter-individual influence factors. METHOD: In this retrospective study, 1566 medical records of children wearing Ortho-K lens were reviewed, and 62 children who received monocular Ortho-K lens for more than 1 year were analyzed. The change in axial length (AL) of the Ortho-K eyes and the emmetropic contralateral eyes was recorded. To evaluate the absolute and relative efficacy of myopia control, the intra-bilateral absolute reduction in AL growth (ibARAL) and the intra-bilateral relative reduction in AL growth (ibRRAL) were calculated as main outcomes. Association of the AL elongation, ibARAL and ibRRAL with age, sex and ocular parameters was analyzed by correlation analysis and generalized estimating equation (GEE) analysis. RESULT: The average initial wearing age was 10.76 ± 1.45 (ranged 8.5 to 15.8). The average baseline SER was - 2.15 ± 1.03 (ranged - 5.25 to -1.00) D in the Ortho-K eyes and - 0.01 ± 0.40 (ranged - 0.75 to 0.75) D in the contralateral eyes. At the 1-year follow-up, the average increased AL was significantly less in the Ortho-K eyes (0.07 ± 0.18 mm) than in the fellow eyes (0.48 ± 0.24 mm) (p < 0.001). The mean ibARAL was 0.41 ± 0.30 mm, and the mean ibRRAL was 83.4%±56.3%. In the GEE model, the AL change in Ortho-K eyes (ß = 0.051, p = 0.009, 95%CI: 0.012 to 0.090), the ibARAL (ß= -0.153, p = 0.000, 95%CI: -0.228 to -0.078) and the ibRRAL (ß= -0.196, p = 0.020, 95%CI: -0.361 to -0.030) were independently associated with the spherical equivalent refraction (SER) of the Ortho-K eyes, after adjusting for age, sex, and keratometry. CONCLUSION: In our study, the Ortho-K treatment was efficacious in controlling axial length growth in the monocular orthokeratology treated unilateral myopic eyes. The efficacy increased when the myopia was more severe. In the children from 8 to 16 years old, the effectiveness was independent of age and sex.

Effects of Different Concentrations of Lactobacillus plantarum and Bacillus licheniformis on Silage Quality, In Vitro Fermentation and Microbial Community of Hybrid Pennisetum.

The purpose of the experiment was to study the effects of different concentrations of Lactobacillus plantarum (LP) and Bacillus licheniformis (BL) on the quality of hybrid Pennisetum (HP) silage. The experiment consisted of five treatment groups. The control group did not use additives, and the experimental groups were added with LP or BL of 1 × 105 cfu/g fresh weight (FW) and 1 × 107 cfu/g FW, respectively. The results showed that LP and BL could increase the in vitro fermentation gas production and reduce the ammonia nitrogen (AN) content in HP silage. Water-soluble carbohydrates (WSC), lactic acid (LA) content, and gas production in the LP group were positively correlated with LP addition, and acetic acid (AA) was negatively correlated with addition. The content of WSC and LA in the LP7 group was significantly higher than that in the control group (p < 0.05), and AA was lower than that in the control group (p > 0.05). Dry matter (DM), crude protein (CP), and gas production were negatively correlated with the addition of BL, while acid detergent fiber (ADF) content was positively correlated with the addition of BL. Furthermore, in the above indicators, the BL5 group reached a significant level with the control group (p < 0.05). The results of 16sRNA showed that the use of LP and BL could increase the relative abundance of Lactobacillus and decrease the relative abundance of Weissella in HP silage compared with the control group. In conclusion, LP and BL can significantly improve the quality of HP silage. The LP7 group and the BL5 group have the best silage effect. From the perspective of gas production in in vitro fermentation, the LP7 group had stronger fermentability and higher nutritional value.

Effects of Fermented Herbal Tea Residue on Serum Indices and Fecal Microorganisms of Chuanzhong Black Goats.

Herbal tea residues (HTRs) are a by-product of herbal tea processing that contains many nutrients and active substances but are often discarded as waste. The main aim of the present study was to determine the food safety of HTRs and lay the foundation for its use as a novel feed resource for goats. In this study, discarded HTRs were fermented and then fed to 33 female Chuanzhong black goats (121 ± 4.00 days) with similar weight (9.33 ± 0.95 kg) and genetic background, which were divided into three groups (fermented herbal tea residue (FHTR) replacement of 0%, 15% and 30% of the forage component of the diet). The feeding experiment lasted for 35 days. On day 35, our findings indicated that the concentrations of hydroxyl radicals and urea increased linearly, and the concentrations of glutathione peroxidase increased quadratically with the increase in FHTR. In addition, we investigated the fecal microbiota composition of eight Chuanzhong black goats in the control, 15% and 30% FHTR replacement groups and found that FHTR had no remarkable effect on the fecal microbiota composition. Results indicated that goat physiological functions remained stable after FHTR was added to the diet.

Effects of Broussonetia papyrifera silage on rumen fermentation parameters and microbes of Holstein heifers.

The structure and types of rumen microbes are closely related to host health. This study aimed to evaluate the effect of Broussonetia papyrifera silage (BPS) gradually replacing the whole crop maize silage (WCMS) on total tract digestibility, rumen fermentation parameters, serum biochemical indicators, and rumen microbes of Holstein heifers. The diet treatment consisted of four proportions of BPS (0%, 25%, 50% and 75%) as substitute for WCMS (designated as T0, T25, T50 and T75, respectively). Twenty heifers (body weight = 245 ± 24 kg) were randomly divided into four groups of five heifers, and randomly received one diet. The feeding adaption period was 7 days, and the experiment period was 30 days. Our findings suggested that the digestibility of neutral detergent fiber and crude protein increased linearly with the increased in BPS (P < 0.05). The concentrations of total protein and albumin increased quadratically with the increased in BPS (P < 0.05). The 16s high-throughput sequencing showed that feeding BPS did not change the diversity and structure of the rumen microbes of heifers. However, the relative abundances of Tenericutes and SR1-Absconditabacteria increased linearly with the increased in BPS (P < 0.05). The Weighted Correlation Network Analysis results suggested that ALT concentration was positively correlated with the abundance of Prevotella-1 (r = 0.73; P = 0.007). In general, Holstein heifers fed with BPS did not change the diversity and uniformity of rumen microbes, and enhanced the body protein metabolism.

A2AR Antagonists Upregulate Expression of GS and GLAST in Rat Hypoxia Model.

BACKGROUND: The aim of this study was to research the effects of glutamine synthetase (GS) and glutamate aspartate transporter (GLAST) in rat Müller cells and the effects of an adenosine A2AR antagonist (SCH 442416) on GS and GLAST in hypoxia both in vivo and in vitro. METHODS: This study used RT-PCR and Western blotting to quantify the expressions of GS and GLAST under different hypoxic conditions as well as the expressions of GS and GLAST at different drug concentrations. A cell viability assay was used to assess drug toxicity. RESULTS: mRNA and protein expression of GS and GLAST in hypoxia Group 24 h was significantly increased. mRNA and protein expressions of GS and GLAST both increased in Group 1 µM SCH 442416 compared with other groups. One micromolar SCH 442416 could upregulate GS and GLAST's activity in hypoxia both in vivo and in vitro. CONCLUSIONS: Hypoxia activates GS and GLAST in rat retinal Müller cells in a short time in vitro. (2) A2AR antagonists upregulate the activity of GS and GLAST in hypoxia both in vivo and in vitro.

Effect of Broussonetia papyrifera silage on the serum indicators, hindgut parameters and fecal bacterial community of Holstein heifers.

This study investigated the effects of substitution of whole corn silage (WCS) with Broussonetia papyrifera silage (BPS) in different ratios on the serum indicators, hindgut fermentation parameters (pH, ammoniacal nitrogen, and volatile fatty acids), and fecal bacterial community of Holstein heifers. Sixteen heifers (8-month-old, 220 ± 30 kg) were randomly divided into four treatments according to different BPS substitution ratios of feed basis (0%, 25%, 50%, and 75%). The experiment consisted of a 7-day preliminary feeding period and a 30-day experimental period. On the last day of the trial, the blood samples were collected from caudal vein, and the feces samples were collected from rectum. With the increasing of BPS content, the concentration of malondialdehyde (MDA) and interleukin-1ß (IL-1ß) in serum decreased (P < 0.05), and the immunoglobulin A (IgA) and IL-4 content of serum increased (P < 0.05); and the hindgut pH value increased (P < 0.05). 16S rRNA sequencing found that the dominant phyla were Firmicutes, Bacteroidetes, and Verrucomicrobia; and the dominant genera were Ruminococcaceae_UCG-005, Ruminococcaceae_UCG-010, and Rikenellaceae_RC9_gut_group. Linear Discriminant Analysis Effect Size (LEfSe) analysis found 12 differential operational taxonomic units (OTUs) which have strong correlation with some serum and hindgut indicators, and have the potential to be used as biomarkers. Phylogenetic Investigation of Communities by Reconstruction of Unobserved States (PICRUSt) found that BPS have impacts on the pathways, such as carbohydrate transport and metabolism, and promotes amino acid transport and metabolism. To sum up, inclusion of BPS in heifer diets can affect serum anti-oxidant and immune indicators, fecal parameters, composition and function of fecal microorganisms in Holstein heifers.

Evaluation of pigeon pea leaves (Cajanus cajan) replacing alfalfa meal on growth performance, carcass trait, nutrient digestibility, antioxidant capacity and biochemical parameters of rabbits.

A 30-day experiment was performed to determine the effect of pigeon pea leaves (PPL) on growth performance, carcass trait, meat quality, nutrient digestibility, antioxidant capacity and biochemical parameters of growing rabbits. In a completely randomized design, PPL replaced alfalfa meal at the level of 0%, 10%, 20% and 30%, which were named PPL0 (control), PPL10, PPL20 and PML30 respectively. Two hundred New Zealand white rabbits at 6 weeks with similar weight (870.23 ± 15.98 g) were allocated to four dietary groups with five replicates containing 10 rabbits/per replicate (male). The results showed that: (a) PPL powder contained 24.26% crude protein, 4.34% crude fat, 17.86% crude fibre, 7.05% ash, 1.35% calcium, 0.28% phosphorus, 1.09% lysine and 0.20% methionine, and the chemical compositions are on DM basis; (b) the ratio of feed to gain of rabbits fed diet PPL10 was significantly better (p < 0.05) than those fed other three diets; (c) the content of longissimus dorsi (LD) moisture in the rabbits fed diets without PPL (control group) was 12% lower than that in the PPL30 diets (60.1 vs. 72.1; p < 0.05). In PPL10, PPL20 and PPL30 diets, the leg muscle (LM) b*(yellowness) value was 33%, 30% and 22.6% higher than the control group respectively. The rabbits fed diets PPL0 had lower (p < 0.05) LM crude protein and ash and higher (p < 0.05) crude fat of LD and LM as compared with those fed other diets; (d) crude protein and energy digestibility of PPL0 and PPL10 diets were significantly higher (p < 0.05) than PPL30 diets; and (e) serum glutathione peroxidase (GSH-Px) activity of the rabbits fed PPL10 and PPL30 diets was significantly higher (p < 0.05) than that fed PPL20 diets. Liver total antioxidant capacity (T-AOC) activity of the PPL30 groups was 1.3% higher (p < 0.05) than the PPL10 group. Additionally, the control group (PPL0) had the highest (p < 0.05) blood urea nitrogen (BUN), total cholesterol (TCHO) and low-density lipoprotein cholesterol (LDLC) content compared with the groups supplemented with PPL. The PPL30 group had the highest (p < 0.05) triiodothyronine (T3 ) and tetraiodothyroxine (T4 ) value among the dietary groups.

Clinical features of posterior microphthalmic and nanophthalmic eyes.

AIM: To clinically differentiate nanophthalmos (NO) and posterior microphthalmos (PM) and to explore the mechanisms related to papillomacular folds (PMF). METHODS: Medical records of 34 unrelated patients with microphthalmos (54 eyes) from April 2009 to October 2017 were retrospectively reviewed. RESULTS: Fourteen eyes of 7 unrelated patients with NO and PM were included in the study. The presenting age of the NO cohort was significantly higher compared with the PM cohort (NO: 27±16y; PM: 3.7±0.6y). PMF was more likely to occur in cases with PM than in NO (25% in NO, 100% in PM). The anatomic features of PMF from optical coherence tomography (OCT) included: ganglion cell layer, inner plexiform layer, inner nuclear layer, outer plexiform layer and outer nuclear layer. In eyes without an apparent PMF (these were all NO eyes), rudimentary fovea without a foveal pit was noted. Four eyes that were NO developed angle closure glaucoma. Three NO eyes developed exudative retinal detachment and were successfully treated with lamellar sclerectomy. CONCLUSION: Posterior segment changes are pervasive both in PM and NO. Complications like angle closure glaucoma and exudative retinal detachment are likely to occur in eyes with NO but not with PM. Detailed OCT analysis found that PMF was partially a neural retinal issue, suggesting that redundancy of retinal issues involved only inner retinal layers.

Evaluating inner retinal dimples after inner limiting membrane removal using multimodal imaging of optical coherence tomography.

BACKGROUND: To evaluate inner retinal dimples after peeling of the inner limiting membrane (ILM) for macular holes (lamellar macular hole [LMH] and full-thickness macular hole [FTMH]) via multiple imaging modes of spectral-domain optical coherence tomography (OCT) and to assess their relationship with preoperative vitreoretinal interface conditions. METHODS: The data of 38 eyes in 35 patients who underwent surgery for LMH, and FTMH were retrospectively studied. The presence of postoperative inner retinal dimples was judged by a combination of en face OCT layer images and cross-sectional images. The demographic and clinical characteristics of eyes with and without inner retinal defects were compared to identify factors involved in the formation of the defects. RESULTS: Inner retinal defects were found in 26 eyes (68%) after surgery. They appeared on the en face OCT ILM layer images as multiple dark spots limited to the ILM peeling area, and corresponded to dimples or pitting of inner retinal layers on cross-sectional OCT images. In 5 cases (19%), apparent progression of inner retinal defects was observed on the en face OCT images as increasing numbers and sizes of the dark spots, which seemed to follow an eccentric growth pattern starting from the central macula. In addition, highly myopic eyes were found to be associated with the formation of more severe inner retinal defects. CONCLUSIONS: Multiple imaging modes of en face spectral-domain OCT provide comprehensive information about the appearance of inner retinal dimples. High myopic eyes seem to develop more severe inner retinal defects after ILM peeling.

Ultra-wide-field scanning laser ophthalmoscopy assists in the clinical detection and evaluation of asymptomatic early-stage familial exudative vitreoretinopathy.

PURPOSE: This study aims to investigate the ability of the ultra-wide-field scanning laser ophthalmoscope (UWF SLO) in clinically detecting and evaluating asymptomatic early-stage familial exudative vitreoretinopathy (FEVR). METHODS: We retrospectively reviewed 163 eyes of 83 asymptomatic family members of 48 patients with FEVR. UWF SLO imaging (Optos® PLC, Scotland, UK) was performed on asymptomatic family members as a preliminary screening test for fundus anomalies, and the findings were compared with subsequent examinations using indirect fundus ophthalmoscopy in full mydriasis, fluorescein angiography (FA), fundus autoflourescence, and genetic sequencing. RESULTS: A total of 86 eyes of 43 asymptomatic family members were clinically diagnosed with early-stage FEVR, and 17 of the affected 43 family members were also genetically diagnosed. Compared with FA as a standard, the UWF SLO was highly effective in diagnosing FEVR with a sensitivity and specificity of 93.0 % and 97.5 %, respectively. The UWF SLO was able to diagnose early-stage FEVR in 93.0 % of eyes, and guided the selection of therapies in 46.5 % of the eyes studied. CONCLUSION: UWF SLO is a valuable imaging tool for detecting fundus anomalies related to early-stage FEVR, and this tool can assist in the clinical diagnosis and evaluation of early-stage FEVR in asymptomatic family members of patients with FEVR.

[Integrated therapy of congenital cataract to prevent blindness and low vision].

Congenital cataract is a major cause of treatable blindness in the pediatric population worldwide. Advances in microsurgical techniques have significantly increased the success rate of surgery. However, visual rehabilitation outcomes are not always satisfactory even after a successful surgery. Due to delayed surgery, irrational aphakic correction, and lack of amblyopic training, a large number of infants in China remain blind or low-visioned after cataract surgery. Appropriate timing of surgical intervention, rational surgical methodology as well as systematic optical correction and amblyopic training are critical for the prevention of blindness and low vision in congenital cataract.

Early vitreoretinal surgery on vascularly active stage 4 retinopathy of prematurity through the preoperative intravitreal bevacizumab injection.

PURPOSE: To evaluate the effect of early vitreoretinal surgery on vascularly active stage 4 ROP through the preoperative use of intravitreal bevacizumab. METHODS: This was a retrospective study. Eighteen patients with vascularly active stage 4 ROP who underwent primary vitrectomy from April 2007 to March 2010 were enrolled. Twelve eyes from eight patients received one-time intravitreal injection of 0.625 mg bevacizumab 7 days prior to vitrectomy (bevacizumab group), and 11 eyes from 10 patients underwent the surgical procedure without bevacizumab (control group). Demographical information of all patients was recorded. The patients were followed up for 12-36 months after the surgery. The postmenstrual age at vitrectomy, surgical procedure, anatomical and visual outcome, adverse effects and surgical complications were compared. RESULTS: There was no statistically significant difference between the two groups in gender, birthweight and gestational age. The bevacizumab group showed remarkable regression of vascular activity after the injection. The mean postmenstrual age at the time of vitrectomy was significantly earlier in the bevacizumab group (40 versus 47 weeks, p = 0.002) compared with the controls. The mean surgery time was shorter in the bevacizumab group (74.81 versus 101.70 min, bevacizumab group versus control, p = 0.002). At the final follow-up, all patients in the bevacizumab group achieved anatomical retinal attachment, compared with 70% in the control group. Eighty-eight per cent patients in the bevacizumab group obtained pattern vision, while it was 30% in the control group (p = 0.015). CONCLUSION: Intravitreal bevacizumab administrated prior to vitrectomy effectively reduced active neovascularization in vascularly active stage 4 ROP patients, thus advancing the timing of vitrectomy and facilitating pars plicata vitrectomy (PPV).

[Investigations on cyclotorsion changes following strabismus surgery in superior oblique palsy patients].

OBJECTIVE: To investigate cyclotorsion changes after strabismus surgery in superior oblique palsy patients. METHODS: Forty patients (50 eyes) underwent myotomy of inferior oblique (15 patients, 15 eyes), partial myectomy of inferior oblique (15 patients, 15 eyes) or myotomy of inferior oblique combined with inferior rectus recession on the other eye (10 patients, 20 eyes) for treatment of monocular superior oblique palsy. Objective cyclotorsion were examined pre-operation, as well as 1, 7, 30, and 90 d post-operation with fundus photograph and quantitive measurement. Vertical deviation and ocular movement were also assessed before and after surgery. Fundus photograph were also examined in 30 normal persons (60 eyes) without strabismus. RESULTS: The fovea-to-disc angle of normal people was 6.7°±2.5° in the right eye, 5.9°±2.3° in the left eye, and 12.6°±4.3° when combined. The cyclotorsion angle was not statistically significant between two eyes (t=1.29, P=0.20). For the monocular superior oblique palsy patients, preoperative fovea-to-disc angle was 14.3°±6.6° in the affected eyes, 12.2°±4.8° in the fellow eyes, and 26.5°±10.3° when combined. The objective cyclotorsion was also not statistically significant between two eyes (t=1.64, P=0.11). The comparison of total cyclotorsion angle of both eyes showed significant difference between normal people and patients. The fovea-to-disc angle of 1, 7, 30 and 90 d after operation were 11.7°±4.3°, 11.9°±4.9°, 13.5°±5.2° and 15.9°±3.6° respectively. The comparison of objective ocular cyclotorsion for both eyes showed significant difference pre- and post-operation (F=40.13, P<0.01). There is a gradual increasing trend of postoperative excyclotorsion angle with the prolonged time. There were statistically significant difference between 90 d and 1 d, 7 d after surgery. The two inferior oblique weakening procedures, myotomy of inferior oblique and partial myectomy of inferior oblique produced equitable amount of incyclotorsion shift with no statistical difference. The difference between the cyclotorsion change induced by myotomy of inferior oblique and inferior rectus recession in counter side was also not statistically significant. CONCLUSIONS: Monocular superior oblique palsy patients had fundus excyclotorsion change that was nearly equally distributed between two eyes. Weakening the inferior oblique and inferior rectus could correct ocular excyclotorsion, the regression trend was observed 90 d after surgery. Both myotomy and partial myectomy of inferior oblique were equally effective in the correct of ocular cyclotorsion and vertical deviation.

Exome sequencing identifies ZNF644 mutations in high myopia.

Myopia is the most common ocular disorder worldwide, and high myopia in particular is one of the leading causes of blindness. Genetic factors play a critical role in the development of myopia, especially high myopia. Recently, the exome sequencing approach has been successfully used for the disease gene identification of Mendelian disorders. Here we show a successful application of exome sequencing to identify a gene for an autosomal dominant disorder, and we have identified a gene potentially responsible for high myopia in a monogenic form. We captured exomes of two affected individuals from a Han Chinese family with high myopia and performed sequencing analysis by a second-generation sequencer with a mean coverage of 30× and sufficient depth to call variants at ∼97% of each targeted exome. The shared genetic variants of these two affected individuals in the family being studied were filtered against the 1000 Genomes Project and the dbSNP131 database. A mutation A672G in zinc finger protein 644 isoform 1 (ZNF644) was identified as being related to the phenotype of this family. After we performed sequencing analysis of the exons in the ZNF644 gene in 300 sporadic cases of high myopia, we identified an additional five mutations (I587V, R680G, C699Y, 3'UTR+12 C>G, and 3'UTR+592 G>A) in 11 different patients. All these mutations were absent in 600 normal controls. The ZNF644 gene was expressed in human retinal and retinal pigment epithelium (RPE). Given that ZNF644 is predicted to be a transcription factor that may regulate genes involved in eye development, mutation may cause the axial elongation of eyeball found in high myopia patients. Our results suggest that ZNF644 might be a causal gene for high myopia in a monogenic form.

Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese population.

High myopia, which is extremely prevalent in the Chinese population, is one of the leading causes of blindness in the world. Genetic factors play a critical role in the development of the condition. To identify the genetic variants associated with high myopia in the Han Chinese, we conducted a genome-wide association study (GWAS) of 493,947 SNPs in 1088 individuals (419 cases and 669 controls) from a Han Chinese cohort and followed up on signals that were associated with p < 1.0 × 10(-4) in three independent cohorts (combined, 2803 cases and 5642 controls). We identified a significant association between high myopia and a variant at 13q12.12 (rs9318086, combined p = 1.91 × 10(-16), heterozygous odds ratio = 1.32, and homozygous odds ratio = 1.64). Furthermore, five additional SNPs (rs9510902, rs3794338, rs1886970, rs7325450, and rs7331047) in the same linkage disequilibrium (LD) block with rs9318086 also proved to be significantly associated with high myopia in the Han Chinese population; p values ranged from 5.46 × 10(-11) to 6.16 × 10(-16). This associated locus contains three genes-MIPEP, C1QTNF9B-AS1, and C1QTNF9B. MIPEP and C1QTNF9B were found to be expressed in the retina and retinal pigment epithelium (RPE) and are more likely than C1QTNF9B-AS1 to be associated with high myopia given the evidence of retinal signaling that controls eye growth. Our results suggest that the variants at 13q12.12 are associated with high myopia.

[Surgical treatment of myopic strabismus fixus by modified Yokoyama's surgery].

OBJECTIVE: To evaluate the surgical results of modified Yokoyama's procedure for treating myopic strabismus fixus. METHODS: Retrospective analysis of records of 5 patients (7 eyes) with high myopic strabismus. Pre- and postoperative orthoptic measurements were recorded and analyzed. Anatomic relationships between the muscle cone and globe were analyzed using MRI or CT scan. The surgical procedure is a modification of Yokoyama's technique and medial rectus muscle was also recessed. RESULTS: The average axis length of 7 eyes was 32.62 mm (SD1.84). The mean preoperative horizontal deviation was 82.86 PD (SD 37.62) esotropia and mean vertical deviation was 20 PD (SD 7.91) hypotropia. All patients had marked limitation of elevation and abduction. Displacement of the lateral rectus inferiorly and superior rectus medially was demonstrated in each patient by CT or MRI scan of the orbits and by observation during surgery. After surgery, the supertemporal dislocation of globe was improved. Both the horizontal and vertical deviations decreased significantly, and the abduction and sursumduction motility were also improved gradually. The average follow-up was 5 months, all patients achieved satisfactory results and remained stable. CONCLUSIONS: In high myopic patients, if the deviant paths of the LR and SR muscles were demonstrated by MRI or CT scan, the surgical procedure to restore the dislocated globe back into the muscle cone by uniting muscle bellies of the superior rectus and lateral rectus muscles is effective and recommended.

Association study of complement factor H, C2, CFB, and C3 and age-related macular degeneration in a Han Chinese population.

PURPOSE: Genes in the complement pathway, including complement factor H (CFH), C2/BF, and C3, have been reported to be associated with age-related macular degeneration (AMD). Genetic variants, single-nucleotide polymorphisms (SNPs), in these genes were geno-typed for a case-control association study in a mainland Han Chinese population. METHODS: One hundred and fifty-eight patients with wet AMD, 80 patients with soft drusen, and 220 matched control subjects were recruited among Han Chinese in mainland China. Seven SNPs in CFH and two SNPs in C2, CFB', and C3 were genotyped using the ABI SNaPshot method. A deletion of 84,682 base pairs covering the CFHR1 and CFHR3 genes was detected by direct polymerase chain reaction and gel electrophoresis. RESULTS: Four SNPs, including rs3753394 (P = 0.0276), rs800292 (P = 0.0266), rs1061170 (P = 0.00514), and rs1329428 (P = 0.0089), in CFH showed a significant association with wet AMD in the cohort of this study. A haplotype containing these four SNPs (CATA) significantly increased protection of wet AMD with a P value of 0.0005 and an odds ratio of 0.29 (95% confidence interval: 0.15-0.60). Unlike in other populations, rs2274700 and rs1410996 did not show a significant association with AMD in the Chinese population of this study. None of the SNPs in CFH showed a significant association with drusen, and none of the SNPs in CFH, C2, CFB, and C3 showed a significant association with either wet AMD or drusen in the cohort of this study. The CFHR1 and CFHR3 deletion was not polymorphic in the Chinese population and was not associated with wet AMD or drusen. CONCLUSION: This study showed that SNPs rs3753394 (P = 0.0276), rs800292 (P = 0.0266), rs1061170 (P = 0.00514), and rs1329428 (P = 0.0089), but not rs7535263, rs1410996, or rs2274700, in CFH were significantly associated with wet AMD in a mainland Han Chinese population. This study showed that CFH was more likely to be AMD susceptibility gene at Chr.1q31 based on the finding that the CFHR1 and CFHR3 deletion was not polymorphic in the cohort of this study, and none of the SNPs that were significantly associated with AMD in a white population in C2, CFB, and C3 genes showed a significant association with AMD.

An association study of SERPING1 gene and age-related macular degeneration in a Han Chinese population.

PURPOSE: Single nucleotide polymorphisms (SNPs) in the complement component 1 inhibitor (SERPING1) gene have been shown to be significantly associated with age-related macular degeneration (AMD) in Caucasian populations. A replication study of an association between these SNPs and AMD in a Chinese population is reported in this study. METHODS: Six SNPs, including rs2511990, rs1005510, rs11546660, rs2511989, rs2511988, and rs4926 in SERPING1 were genotyped in a Han Chinese subject group using the SNaPshot method of ABI. This subject group was composed of 194 patients with choroidal neovascularization (CNV or wet) AMD, 78 patients with soft drusen, and 285 matched controls. P values of the SNPs were calculated using an additive model. Haplotype frequencies between cases and controls were compared by chi2 analysis. The haplotype analysis was performed using Haploview 4.0. RESULTS: None of the six SNPs showed significant association with AMD. None of the major haplotypes were observed to be significantly associated with AMD or choroidal neovascularization AMD (CNV) after a stringent Bonferroni correction. CONCLUSIONS: We demonstrate that SNPs in SERPING1 are not significantly associated with AMD in the mainland Han Chinese population.