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Marfan syndrome (MFS) is associated with abnormalities of corneal biometric characteristics. We conducted a retrospective case-control study including 55 eyes of the MFS patients with lens subluxation and 53 normal eyes of the control subjects to evaluate the corneal curvature, astigmatism and aberrations using a rotating Scheimpflug camera (Pentacam HR). Compared with the control group, the anterior, posterior, and total corneal curvature were flatter in the MFS group. The anterior and total corneal astigmatism were higher in the MFS patients, whereas the posterior corneal astigmatism was not significantly different between the two groups. Regarding the total corneal aberrations, the root mean square (RMS) aberrations, RMS higher-order aberrations and RMS lower-order aberrations increased, whereas the spherical aberration decreased in the MFS patients. Corneal parameters had potential diagnostic values for MFS patients with lens subluxation and the more reasonable cutoffs were the values of corneal curvature <41.35 D, corneal astigmatism >0.85 D and spherical aberration <0.188 μm. Corneal biometric characteristics of MFS patients with lens subluxation include decreased corneal curvature, higher corneal astigmatism, larger corneal aberrations, and lower spherical aberration. Corneal curvature, corneal astigmatism, and spherical aberration are better diagnostic tools for suspicious MFS.

Background Parry-Romberg syndrome (PRS) is a rare progressive degenerative disorder of unknown etiology. Here we report a rare case of PRS combined with lens subluxation in Eye and ENT hospital of Fudan University, Shanghai. To our knowledge, it is the first reported case of PRS combined with lens subluxation that has been managed surgically with phacoemulsification and CTR placement and IOL implantation in Shanghai. Case presentation A 60-year-old woman was referred for “right visual blur for 2 years” and had persistent right facial paralysis of unknown etiology since the age 12. She had right facial muscle atrophy and paralysis. Eye examination also showed the right eyelid pseudoptosis, enophthalmos, age-related cataract combined with lens subluxation existed in the right eye. The patient was diagnosed as age-related cataract and lens subluxation in the right eye and progressive hemifacial atrophy (Parry-Romberg syndrome). We conducted a combined phacoemulsification, IOL and CTR implantation and pupilloplasty surgery for the patient under general anesthesia and the postoperative UCVA was 20/30 and remained for 1 year’s follow up. Conclusions Here we reported a rare case of PHA combined with lens subluxation in China. After appropriate eye surgery, the patient achieved satisfying vision result in the right eye.

To evaluate the corneal spherical aberrations in cataract patients with and without high myopia, we conducted a retrospective case series of 502 cataract eyes with high myopia and 1500 age-related cataract eyes and measure their corneal biometric data and axial length using Pentacam and IOLMaster. Both the anterior and total corneal primary spherical aberrations were lower in the high myopia group than that in the control group (0.317 ± 0.215 vs 0.338 ± 0.148 μm, P  = 0.043; and 0.281 ± 0.207 vs 0.314 ± 0.153 μm, P  < 0.001). The incidence of eyes with negative total corneal primary spherical aberration increased as axial length increased in the high myopia group, and the overall incidence was higher in the high myopia group than that in the control group (2.59% vs 1.47%). These were mainly contributed to the younger age of cataract patients with high myopia (55.76 ± 13.10 vs 60.18 ± 15.72 years, P  < 0.001), along with the positive correlations between age and anterior and total corneal primary spherical aberrations. In clinical practice, an aspheric IOL with a low negative or zero primary spherical aberration is recommended for cataract patients with high myopia. Negative total ocular primary spherical aberrations resulting from aspheric IOL implantation should be avoided in extremely high myopic eyes.

PurposeTo study the prevalence of posterior corneal astigmatism (PCA) and aberration in Chinese eyes before cataract surgery.MethodsA cross-sectional study was conducted in Eye and ENT Hospital of Fudan University, Shanghai. In all, we enrolled 1976 eligible eyes of 1976 cataract patients. The astigmatism and aberrations of anterior and posterior cornea were measured by the rotating Scheimpflug System (Pentacam HR, Oculus). Cataract was diagnosed using slit-lamp examination.ResultsThe mean age of patients was 61.82 ± 13.67 years old. Mean PCA was 0.28 ± 0.16 (range 0–1.0) D and 87.04% eyes had PCA values <0.5 D. WTR astigmatism predominated the anterior cornea astigmatism (43.1%), while ATR astigmatism predominated posterior (85.4%) and total corneal astigmatism (47.2%). We found a shift tendency of WTR to ATR with aging in anterior corneal astigmatism, while PCA remains ATR. A positive correlation between the magnitude of anterior and posterior corneal astigmatism (r2 = 0.089, P < 0.001) was found, especially in WTR anterior cornea astigmatism eyes (r2 = 0.298, P < 0.001). Compared with total corneal astigmatism, anterior corneal measurements overestimated WTR astigmatism by a mean of 0.24 ± 0.13 (D), and underestimated ATR astigmatism and oblique astigmatism in most eyes. Furthermore, anterior corneal aberrations measurements overestimated the total corneal aberration in most eyes.ConclusionsAbout 12.96% of eyes had PCA ≥0.5 D. The posterior surface remained ATR astigmatism in most cases with aging. Neglecting the posterior cornea would result in overestimation in WTR anterior corneal eyes and underestimation in ATR and oblique anterior corneal eyes. Also, the posterior corneal aberration was also essential in clinics.

Background Mutations in more than 52 genes have been identified in isolated congenital cataracts, the majority of which are located in crystalline and connexin (gap junction) genes. An in-frame one amino acid deletion in the beta-crystalline gene CRYBA1 has been reported in several different Chinese, Caucasian and Iranian families of congenital cataracts. Further functional studies are needed to confirm the variant pathogenicity. Methods The purpose of this study is to identify the genetic causes that contribute to congenital cataracts with esotropia and nystagmus in a Chinese family. Whole-exome sequencing was performed on samples from all five family members. The two brothers of the father and their daughters were then enrolled in the study, and 40 suspected variants were sequenced among the 9 subjects using Sanger sequencing. The mRNA and protein levels of CRYBA1 in the lens epithelium from cataract patients and normal controls were compared using quantitative polymerase chain reaction (qPCR) and Western blot analyses. The wild-type and mutated forms (p.G91del) of CRYBA1 cDNA were transfected into two types of cell lines, and the expression level of exogenous CRYBA1 was measured by Western blot analysis. The exogenous CRYBA1 proteins were visualized by immunofluorescence staining. Results In this two-generation family, all three descendants inherited congenital cataracts with esotropia and nystagmus from the father, while the mother’s lens was normal. After two rounds of sequencing, CRYBA1 (c. 269–271 del, p.G91del) was identified as the mutation responsible for the autosomal dominant congenital cataract in the Chinese family. CRYBA1 showed lower expression in cataract lenses than in control lenses. The deleted form (p.G91del) of CRYBA1 showed lower expression and was more aggregate to the cell membrane than the wild-type CRYBA1. Conclusions We performed molecular experiments to confirm that the p.G91del mutation in CRYBA1 results in abnormal expression and distribution of CRYBA1 protein, and this study could serve as an example of the pathogenicity of an in-frame small deletion in an inherited eye disorder.

PurposeTo evaluate the surgical outcomes of cyclodialysis cleft repair and cataract management by phacoemulsification combined with internal tamponade using a modified capsular tension ring (MCTR) compared with direct cyclopexy.MethodsThe preoperative and postoperative characteristics of patients with cyclodialysis clefts who underwent surgery via insertion of an MCTR into the ciliary sulcus (MCTR group; 16 patients, 16 eyes) or direct cyclopexy (DC group; 16 patients, 16 eyes) were recorded.ResultsThe cyclodialysis extended over 2.6 ± 1.9 clock hours in the MCTR group and 3.5 ± 1.8 clock hours in the DC group (P = 0.094). Postoperatively, the IOP was not significantly different between the MCTR and DC groups (12.9 ± 3.7 mmHg vs. 13.8 ± 6.2 mmHg, P = 0.985); the logarithm of the minimal angle of resolution BCVA was better (0.1 ± 0.2 vs. 1.0 ± 0.9, P < 0.001), and the anterior chamber depth was greater (3.87 ± 0.40 mm vs. 2.59 ± 0.58 mm, P < 0.001) in the MCTR group than in the DC group. Compared with the preoperative parameters, the postoperative BCVA, IOP, and anterior chamber depth values were significantly improved in the MCTR group (P < 0.05), whereas the BCVA showed no significant improvement postoperatively in the DC group (P = 0.174). Logistic regression revealed no significant risk factors for successful IOP control or BCVA improvement.ConclusionPhacoemulsification combined with internal tamponade using MCTR insertion into the ciliary sulcus is a safe and minimally invasive method for effectively closing cyclodialysis clefts and managing cataract.

To evaluate the characteristics of the posterior corneal surface in patients with high myopia before cataract surgery. We performed a cross-sectional study at the Eye and ENT Hospital of Fudan University, Shanghai, China. Corneal astigmatism and axial length were measured with a rotating Scheimpflug camera (Pentacam) and partial coherence interferometry (IOLMaster) in a high-myopia study group of 167 eyes (axial length ≥ 26 mm) and a control group of 150 eyes (axial length > 20 mm and < 25 mm). Total corneal astigmatism and anterior corneal astigmatism values were higher in the high-myopia group than in the control group. There was no significant difference in posterior corneal astigmatism between the high-myopia study group and the control group. In the study group, the mean posterior corneal astigmatism (range 0 - -0.9 diopters) was -0.29 diopters (D) ± 0.17 standard deviations (SD). The steep corneal meridian was aligned vertically (60°-120°) in 87.43% of eyes for the posterior corneal surface, and did not change with increasing age. There was a significant correlation (r = 0.235, p = 0.002) between posterior corneal astigmatism and anterior corneal astigmatism, especially when the anterior corneal surface showed with-the-rule (WTR) astigmatism (r = 0.452, p = 0.000). There was a weak negative correlation between posterior corneal astigmatism and age (r = -0.15, p = 0.053) in the high-myopia group. Compared with total corneal astigmatism values, the anterior corneal measurements alone overestimated WTR astigmatism by a mean of 0.27 ± 0.18 D in 68.75% of eyes, underestimated against-the-rule (ATR) astigmatism by a mean of 0.41 ± 0.28 D in 88.89% of eyes, and underestimated oblique astigmatism by a mean of 0.24 ± 0.13 D in 63.64% of eyes. Posterior corneal astigmatism decreased with age and remained as ATR astigmatism in most cases of high myopia. There was a significant correlation between posterior corneal astigmatism and anterior corneal astigmatism when anterior corneal astigmatism was WTR. If posterior corneal astigmatism is not accounted for when selecting toric intraocular lenses for high-myopia patients, the use of anterior corneal astigmatism measurements alone will lead to overestimation of WTR astigmatism and underestimation of ATR and oblique astigmatism.

Currently, regression prediction methods based on logging data is one of the main methods for analyzing gas content of coal seams. However, the complexity of logging parameters for deep coal seams and the scarcity of measured gas content data significantly affects the accuracy and generalizability of data regression models. Accurately predicting the gas content of coal seams under small-sample condition become a difficult point in deep coalbed methane (CBM) exploration. The Model-Agnostic Meta-Learning (MAML) and Support Vector Regression (SVR) algorithms are among the few suitable for small-sample learning, exhibiting strong adaptability under limited sample conditions. In this study, logging parameters are used as input variables to construct MAML and SVR models, and their performance in predicting gas content of deep coal seams across different regions and layers is compared. The results demonstrate that the MAML algorithm effectively addresses the complex relationships between gas content of deep coal seam and logging parameters. The prediction errors for test dataset and new samples are merely 3.61% and 4.52% respectively, indicating exceptional adaptability, robust generalization capability, and stable model performance. In contrast, the dependency of SVR model on input parameters restricts its accuracy and generalizability in predicting gas content in deep coal seams with varying geological conditions. Although achieving a test dataset error of 4.71%, the SVR model demonstrates substantially degraded performance when applied to novel samples, with prediction errors escalating to 12.46%. Therefore, the MAML model is selected to predict gas content in the unknown areas of the Baijiahai region. The prediction results reveal that the gas content of coal seams in the Xishanyao formation ( J 2 x ) ranges from 1.32 m 3 /t to 16.11 m 3 /t, while that in the Badaowan Formation ( J 1 b ) varies between 1.73 m 3 /t and 11.27 m 3 /t. Notably, the gas enrichment areas are predominantly distributed in well blocks adjacent to fault systems, such as wells C31 and BJ8, etc., which align with the favorable geological conditions for deep CBM accumulation in the Baijiahai region. These spatial distribution patterns not only corroborate existing geological insights but also further validate the reliability of the MAML model in predicting gas content within deep coal seams.

PurposeTo investigate the associations between single-nucleotide polymorphisms (SNPs) in the lysyl oxidase-like 1 (LOXL1) gene and copper chaperone genes and pseudoexfoliation-syndrome-related cataract (PEXC) in a Chinese Uygur population.MethodsA case–control study was performed at the Second People’s Hospital of Kashgar. Venous blood DNA was obtained from 70 patients with PEXC and 70 patients with age-related cataract (ARC). The exonic sequences of the LOXL1, antioxidant 1 copper chaperone (ATOX1), cytochrome C oxidase 17 copper chaperone (COX17), and copper chaperone for superoxide dismutase (CCS) genes were determined by Sanger sequencing, followed by a genetic association study. SIFT and PolyPhen-2 were used to predict the functional effects of the SNPs detected. The protein levels of CCS in lens-capsule specimens were measured by Western blotting. The plasma level of the CCS protein was measured using an enzyme-linked immunosorbent assay.ResultsTwo coding SNPs (rs1048661 and rs3825942) in LOXL1 gene and a non-synonymous risk variant in CCS gene: CCS (c.717C>G, p.Asn239Lys) were significantly associated with PEXC. The TT genotype of rs1048661 was protective against PEXC in this Uygur population. The GG genotype of rs3825942 and its G allele were associated with an increased risk of PEXC. The CC genotype of c.717C>G and its C allele were protective against PEXC. The plasma level of CCS was significantly lower in patients with PEXC compared with those with ARC.ConclusionsThe rs3825942 SNP of LOXL1 was strongly associated with PEXC in this Uygur population in China. CCS variants may represent a risk factor for PEXC. Our findings expand the understanding of the genetic base of PEXC.

Purpose: To analyze the anterior, posterior, and total corneal spherical aberrations (ASA, PSA, and TSA) in patients with Chinese bilateral ectopia lentis (EL). Methods: A cross-sectional study was conducted to evaluate corneal spherical aberration (CSA) using a Pentacam system at the 6-mm optical zone. Axial length, keratometry, astigmatism, and corneal asphericity were also determined. Results: This study included 247 patients (420 eyes) with a mean age of 18.1 years. The values of ASA, PSA, and TSA were 0.136 ± 0.100 μm, −0.118 ± 0.030 μm, and 0.095 ± 0.095 μm, respectively. In the EL patients with Marfan syndrome (MFS), ASA and TSA were significantly lower than in the non-MFS patients (0.126 ± 0.094 μm vs. 0.155 ± 0.107 μm, P = 0.004 for ASA; 0.085 ± 0.091 μm vs. 0.114 ± 0.099 μm, P = 0.003 for TSA), whereas PSA was not significantly different ( P = 0.061). The values of ASA and TSA were significantly higher in the patients with EL aged ≥ 40 years old than in younger patients, whereas ASA and PSA were lower in patients aged <10 years old than in older patients (all P < 0.05). In the multiple linear regression analysis, age, keratometry, astigmatism, anterior asphericity, higher-order aberration (HOA), and lower-order aberration (LOA) were positively or negatively correlated with TSA in the patients with EL ( r = 0.681, P < 0.001). Conclusions: Corneal spherical aberration was low in the patients with EL especially for MFS and tended to increase with aging. Preoperatively, individual measurement of CSA was necessary for bilateral EL patients with MFS.