Lens subluxation combined with parry-romberg syndrome: case report.

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.

Intravitreal injection of EV11, a novel aryl ketone amide, inhibits choroidal neovascularization via AKT/ERK1/2 pathway.

PURPOSE: Choroidal neovascularization (CNV) is the major cause of irreversible vision loss associated with age-related macular disease (AMD). The currently clinical chemical therapeutic strategies are of high cost and facing supply chain shortage. In our study, we aim to investigate EV11, a novel derivative from Sorafenib, as a new approach to inhibit the formation of CNV. METHODS: Cell viability assay, wound healing assay, transwell assay and tube formation assay were applied to explore the effects of EV11 on human vascular endothelial cells (HUVECs). Western blotting analysis was performed to investigate the pathways when EV11 acts on HUVECs. Laser-induced CNV in mice and intravitreal injection of EV11 were applied to find out the efficacy of the drug in vivo. Histological examination and electroretinogram (ERG) evaluated the retinal morphology and visual function after drug application. RESULTS: EV11 influenced the HUVECs cell viability as the concentration increasing after 24 hour incubation. It influenced HUVECs through suppressing AKT and ERK1/2 pathway. EV11 reduced CNV area with the optimal concentration of 200uM in mice eyes and compared with Bevacizumab, it had the same effect. The retinal thickness around the optic in each group was not influenced. The amplitudes of the a- and b-waves on scotopic and photopic ERG were not reduced after intravitreal injection. CONCLUSION: The present study indicated that EV11 affected the proliferation, migration and tube formation of HUVECs, inhibited the area of neovascular of laser induced choroidal neovascularization in mice eyes with no toxicity. EV11 could block the AKT/ERK1/2 signaling pathway in effects of HUVECs. This study unveiled a novel perspective drug EV11 to be a potential candidate for neovascularization.

Analysis of Corneal Spherical Aberrations in Chinese Bilateral Ectopia Lentis Patients.

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.

Evaluation of the B/F Ratio Distribution of Cataract Patients Without Corneal Abnormalities and Its Effect on Ocular Parameters.

PURPOSE: To evaluate the distribution of the posterior-anterior corneal radius ratio (B/F ratio; posterior corneal radius/anterior corneal radius) in patients without corneal abnormalities, and to investigate which parameters affect this ratio. METHODS: Five thousand eyes from 5,000 patients who underwent cataract surgery were recruited to this study. We explored the linear relationship between B/F ratio and 13 variables using Principal Component-Multivariate Linear Regression Analysis. RESULTS: The B/F ratio was negatively correlated with the difference between simulated keratometry (SimK) and true net power (TNP), central corneal thickness, spherical aberration (SA), and posterior corneal astigmatism and positively correlated with posterior corneal radius, corneal posterior surface, axial length (AL) and anterior corneal radius. Several variables (central corneal thickness, difference between SimK and TNP and asphericity coefficient (Q-value) of the posterior corneal surface) had the highest loading on the final score. B/F ratio reflects the refractive state and anatomical structure of the cornea: thus, higher B/F ratios were associated with larger posterior corneal surface curvature radius, longer axial length, thinner central corneal thickness, lower high order aberrations of the cornea and SA, and the numerical difference between simK and TNP gradually reduced. In clinical practice, for patients with lower B/F ratio, special care should be taken in the choice of system used for intraocular lens (IOL) measurements.

Differential Effects of TGF-ß2 on the Low-Density Lipoprotein Receptor Expression in Three Types of Human Subconjunctival Fibroblasts.

Purpose: To investigate whether TGF-ß2 had a different effect on the expression levels of low-density lipoprotein receptor (LDLr) in the subconjunctival fibroblasts from glaucoma patients who underwent a reoperation (RGSFs) compared with those from glaucoma patients who underwent first filtering surgery (GSFs) and control patients with cataracts (HSFs). Methods: Human subconjunctival fibroblasts were obtained from the three groups of patients. Different concentrations of TGF-ß2 were added to the fibroblasts for 1, 3, and 5 days. The proliferation of the fibroblasts was determined by CCK-8 assays. Real-time PCR and western blotting were performed to analyze the mRNA and protein levels of LDLr. The uptake of DiI-labeled LDL was determined by confocal microscopy. Results: The results revealed that under TGF-ß2 exposure, fibroblast proliferation was positively correlated with LDLr expression (all p < .001). The LDLr mRNA and protein levels were affected by TGF-ß2 in a concentration-dependent and time-dependent manner in the RGSFs, GSFs and HSFs. The maximal expression of LDLr after TGF-ß2 stimulation was consistent with the peak uptake of DiI-LDL, which was obviously highest in the RGSFs, followed by the GSFs, and then the HSFs (all p < .05). All 3 groups took up DiI-LDL in a similar time-dependent manner, with maximal uptake at 6 h following DiI-LDL incubation (all p < .05). In addition, there were significant differences in the LDLr protein levels in the subconjunctival tissues isolated from the glaucoma patients during reoperation, the glaucoma patients during first filtering surgery and the control patients at day 3 (p < .05). The highest protein expression of LDLr was observed in the RG group. Conclusion: These data suggested that the RGSFs had the highest LDLr expression and the highest peak uptake of LDL among three groups. The LDLr-drug-LDL delivery system could potentially be used for targeted delivery of antimetabolite agents in anti-scarring therapy for glaucoma patients after filtering surgery.

Associations of polymorphisms in LOXL1 and copper chaperone genes with pseudoexfoliation-syndrome-related cataract in a Chinese Uygur population.

PURPOSE: To 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. METHODS: A 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. RESULTS: Two 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. CONCLUSIONS: The 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.

TRIM69 inhibits cataractogenesis by negatively regulating p53.

Ultraviolet B (UVB) irradiation can induce reactive oxygen species (ROS) production and apoptosis in human lens epithelial cells (HLECs), thus leading to the formation of cataracts. We studied the role of tripartite motif 69 (TRIM69) in cataract formation. The expression of TRIM69 protein was down-regulated in both human cataract capsule tissues and HLECs treated with UVB, whereas the expression of p53 protein exhibited an opposite trend. Ectopic expression of TRIM69 in HLECs significantly suppressed UVB-induced apoptosis and ROS production, whereas knockdown of TRIM69 promoted apoptosis and ROS production. TRIM69 can interact with p53 and induce its ubiquitination. The effects of TRIM69 overexpression in UVB-induced cell apoptosis and ROS production was clearly weakened by p53 overexpression, thus suggesting a role for p53 in TRIM69 functions. Furthermore, inhibition of ROS mitigated the effects of UVB irradiation on ROS production, cell apoptosis, forkhead box protein 3a (Foxo3a) phosphorylation, and TRIM69 expression. Additionally, Foxo3a overexpression significantly enhanced TRIM69 promoter activity, whereas Foxo3a knockdown had the opposite effect. In conclusion, we provide the first demonstration that Foxo3a is a potential transcription factor for TRIM69, and TRIM69 induces p53 ubiquitination. These results suggest that the Foxo3a/TRIM69/p53 regulatory network may be involved in cataract formation.

Analysis of corneal higher-order aberrations in cataract patients with high myopia.

PURPOSE: To evaluate the differences in corneal higher-order aberrations (HOAs) between cataract patients with high axial myopia and normal cataract patients, and to identify the associated factors. SETTING: Department of Ophthalmology and Vision Science of the Eye and ENT Hospital of Fudan University, Shanghai, China. DESIGN: Retrospective case series. METHODS: Corneal aberrations and axial lengths (ALs) were measured using a rotating Scheimpflug camera (Pentacam) and partial coherence interferometry (IOLMaster) in the high myopia group and the control group. RESULTS: The study comprised 287 patients (520 eyes). There were 194 eyes in the high myopia group and 326 eyes in the control group. The 5 anterior corneal aberrations-vertical coma, vertical trefoil, horizontal coma, oblique trefoil, and primary spherical aberration-in the high myopia group were 0.07 µm ± 0.38 (SD), -0.11 ± 0.23 µm, 0.07 ± 0.28 µm, -0.02 ± 0.18 µm, and 0.39 ± 0.19 µm, respectively. No negative primary spherical aberrations of the total or anterior corneal surface were found in the high myopia group. Differences between the 2 groups were found in terms of central corneal thickness, astigmatism, primary spherical aberration, vertical coma, and oblique trefoil; however, these differences were not consistent between different age subgroups. Higher-order aberrations were correlated with age. Posterior corneal vertical coma was correlated with AL (Pearson correlation = -0.188, P = .047). CONCLUSIONS: Negative primary spherical aberrations of the anterior or total corneal surface were not found in the high myopia group. Age showed a strong relationship with HOAs. For cataract patients with high myopia, aspheric intraocular lens implantation is recommended.

Cyclodialysis cleft repair and cataract management by phacoemulsification combined with internal tamponade using modified capsular tension ring insertion.

PURPOSE: To 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. METHODS: The 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. RESULTS: The 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. CONCLUSION: Phacoemulsification 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.

Distribution of posterior corneal astigmatism and aberration before cataract surgery in Chinese patients.

PURPOSE: To study the prevalence of posterior corneal astigmatism (PCA) and aberration in Chinese eyes before cataract surgery. METHODS: A 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. RESULTS: The 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. CONCLUSIONS: About 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.

Cionni-modified capsular tension ring for surgical repair of cyclodialysis after trabeculectomy: a case report.

BACKGROUND: To report a case for repair of cyclodialysis after trabeculectomy with Cionni-modified capsular tension ring. CASE PRESENTATION: A 64-year-old man who had undergone trabeculectomy of his left eye 3 months earlier visited our clinic owing to blurred vision. His visual acuity was 20/2000 and the intraocular pressure (IOP) was 6 mmHg. Slit-lamp examination showed a shallow anterior chamber and dense cataract. Ultrasound biomicroscopy revealed 360 ° detachment of the ciliary body and suspected cyclodialysis of the trabeculectomy incision. Choroidal detachment was confirmed by B-scan ultrasonography and optical coherence tomography. Phacoemulsification was performed in which a foldable intraocular lens (IOL) was implanted in the capsular bag and a Cionni-modified capsular tension ring (MCTR) was inserted into the ciliary sulcus. The maximum focal point of the MCTR was rotated to the site of the most severe cyclodialysis and the MCTR was sutured to the sclera through its two eyelets. The patient's best-corrected visual acuity improved to 30/50 and the IOP increased to 16 mmHg after surgery. Gonioscopy and ultrasound biomicroscopy confirmed closure of the cyclodialysis and resolution of choroidal detachment. CONCLUSIONS: Phacoemjulsification with implantation of an intraocular lens combined with insertion of an MCTR into the ciliary sulcus appears to be a relatively safe, effective, minimally invasive method for repairing cyclodialysis in cataract patients. Although the technique yielded good results and appeared to be safe in one patient, further studies are necessary to validate the findings on more patients and with a long-term follow-up.

Posterior Corneal Characteristics of Cataract Patients with High Myopia.

PURPOSE: To evaluate the characteristics of the posterior corneal surface in patients with high myopia before cataract surgery. METHODS: 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). RESULTS: 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. CONCLUSIONS: 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.

LOXL1 Hypermethylation in Pseudoexfoliation Syndrome in the Uighur Population.

PURPOSE: High prevalence of pseudoexfoliation syndrome (PEX) occurs in the Uighur population. This study investigated DNA methylation of the lysyloxidase-like 1 (LOXL1) gene in Uighur PEX patients with cataracts. METHODS: The research involved 10 lens capsule specimens from Uighur PEX patients with cataracts and 10 lens capsule specimens from Uighur control patients with age-related cataract (ARC) alone. All specimens were freshly collected during cataract surgery. Methylation status of the CpG islands was analyzed using pyrosequencing. The mRNA levels of LOXL1 were evaluated by quantitative real-time PCR, and protein levels were evaluated by Western blot assay. RESULTS: For all the six chosen CpG islands of the LOXL1 gene promoter, hypermethylation was found in the PEX with cataracts compared to the age-matched ARC group. At the same time, the expression level of LOXL1 mRNA was significantly reduced in the PEX with cataracts group than that in the ARC group, and the expression level of the LOXL1 protein product demonstrated a similar tendency. CONCLUSIONS: The susceptible PEX gene LOXL1 undergoes DNA hypermethylation in its promoter region in Uighur PEX with cataracts patients. This indicates that epigenetic regulation might play roles in PEX pathogenesis.