Enhancing Vault Prediction and ICL Sizing Through Advanced Machine Learning Models.

PURPOSE: To use artificial intelligence (AI) technology to accurately predict vault and Implantable Collamer Lens (ICL) size. METHODS: The methodology focused on enhancing predictive capabilities through the fusion of machine-learning algorithms. Specifically, AdaBoost, Random Forest, Decision Tree, Support Vector Regression, LightGBM, and XGBoost were integrated into a majority-vote model. The performance of each model was evaluated using appropriate metrics such as accuracy, precision, F1-score, and area under the curve (AUC). RESULTS: The majority-vote model exhibited the highest performance among the classification models, with an accuracy of 81.9% area under the curve (AUC) of 0.807. Notably, LightGBM (accuracy = 0.788, AUC = 0.803) and XGBoost (ACC = 0.790, AUC = 0.801) demonstrated competitive results. For the ICL size prediction, the Random Forest model achieved an impressive accuracy of 85.3% (AUC = 0.973), whereas XG-Boost (accuracy = 0.834, AUC = 0.961) and LightGBM (accuracy = 0.816, AUC = 0.961) maintained their compatibility. CONCLUSIONS: This study highlights the potential of diverse machine learning algorithms to enhance postoperative vault and ICL size prediction, ultimately contributing to the safety of ICL implantation procedures. Furthermore, the introduction of the novel majority-vote model demonstrates its capability to combine the advantages of multiple models, yielding superior accuracy. Importantly, this study will empower ophthalmologists to use a precise tool for vault prediction, facilitating informed ICL size selection in clinical practice. [J Refract Surg. 2024;40(3):e126-e132.].

Predictability comparison of sizing parameters for postoperative vault after implantable Collamer lens implantation.

PURPOSE: This study aims to assess the accuracy of three parameters (white-to-white distance [WTW], angle-to-angle [ATA], and sulcus-to-sulcus [STS]) in predicting postoperative vault and to formulate an optimized predictive model. METHODS: In this retrospective study, a cohort of 465 patients (comprising 769 eyes) who underwent the implantation of the V4c implantable Collamer lens with a central port (ICL) for myopia correction was examined. Least absolute shrinkage and selection operator (LASSO) regression and classification models were used to predict postoperative vault. The influences of WTW, ATA, and STS on predicting the postoperative vault and ICL size were analyzed and compared. RESULTS: The dataset was randomly divided into training (80%) and test (20%) sets, with no significant differences observed between them. The screened variables included only seven variables which conferred the largest signal in the model, namely, lens thickness (LT, estimated coefficients for logistic least absolute shrinkage of -0.20), STS (-0.04), size (0.08), flat K (-0.006), anterior chamber depth (0.15), spherical error (-0.006), and cylindrical error (-0.0008). The optimal prediction model depended on STS (R2=0.419, RMSE=0.139), whereas the least effective prediction model relied on WTW (R2=0.395, RMSE=0.142). In the classified prediction models of the vault, classification prediction of the vault based on STS exhibited superior accuracy compared to ATA or WTW. CONCLUSIONS: This study compared the capabilities of WTW, ATA, and STS in predicting postoperative vault, demonstrating that STS exhibits a stronger correlation than the other two parameters.

Comparison of myopic astigmatic correction after cross-assisted SMILE, FS-LASIK, and transPRK.

PURPOSE: To compare astigmatic correction among cross-assisted small-incision lenticule extraction (SMILE), femtosecond laser-assisted in situ keratomileusis (FS-LASIK), and transepithelial photorefractive keratectomy (transPRK). SETTING: The Eye Hospital of Wenzhou Medical University, Zhejiang, China. DESIGN: Prospective comparison study. METHODS: 154 right eyes of 154 patients with astigmatism of -1.00 to -2.75 diopters (D) were included in this study. 64 eyes, 42 eyes, and 48 eyes were receiving SMILE, FS-LASIK, and transPRK, respectively. The SMILE group used cross-axial alignment for head positioning for astigmatism correction. In the FS-LASIK and transPRK groups, static and dynamic cyclotorsion control were used. Changes in ocular parameters and vector analysis were assessed at 6 months postoperatively. RESULTS: The safety and efficacy indices were comparable among the 3 groups at 6 months postoperatively. Residual astigmatism was smallest in the SMILE group (-0.23 ± 0.25 D) compared with that in FS-LASIK (-0.40 ± 0.28 D, P = .009) and transPRK groups (-0.42 ± 0.32 D, P = .001). 53 (82.8%), 36 (85.7%), and 37 (77.1%) eyes achieved an angle of error within ±5 degrees, respectively ( P = .55). Notably, vector analysis showed that the difference vector, the magnitude of the error, and its absolute value were significantly smaller in the SMILE group than those in the other groups ( P < .05). In addition, the higher-order aberrations, especially coma, were significantly induced postoperatively in each group ( P < .001). CONCLUSIONS: Residual astigmatism magnitude was smallest by cross-assisted SMILE, followed by FS-LASIK and transPRK, and the astigmatism axial correction was comparable among groups.

Early changes of ganglion cell-inner plexiform layer thickness and macular microvasculature in Posner-Schlossman syndrome: a binocular control study by OCTA.

To evaluate the early changes in ganglion cell-inner plexiform layer thickness and macular microvasculature in Posner-Schlossman syndrome (PSS) with a binocular control study involving optical coherence tomography angiography (OCTA). Twenty-six patients with unilateral PSS were included in this cross-sectional study. All subjects underwent a thorough ocular examination. Macular ganglion cell-inner plexiform layer (mGCIPL) and superficial macular microvasculature measurements, including vessel density (VD), perfusion density (PD) and the foveal avascular zone (FAZ), were recorded. In PSS-affected eyes, the mGCIPL thickness was significantly lower in all quadrants than in the contralateral eyes (all p < 0.05). Significant macular microvascular damage was found in the PSS-affected eyes, including whole-image VD (wiVD), wiPD, perifoveal VD (periVD) and periPD (all p < 0.05); but there was no obvious difference in parafoveal VD (paraVD), paraPD and FAZ parameters (all p > 0.05). In addition, a decreased wiVD and wiPD were significantly correlated with a smaller mGCIPL thickness and a decreased MD (all p < 0.05). These parameters may contribute to the early detection of glaucomatous damage and timely supervision of disease progression in PSS.

3D Printing Technology for Smart Clothing: A Topic Review.

Clothing is considered to be an important element of human social activities. With the increasing maturity of 3D printing technology, functional 3D printing technology can realize the perfect combination of clothing and electronic devices while helping smart clothing to achieve specific functions. Furthermore, the application of functional 3D printing technology in clothing not only provides people with the most comfortable and convenient wearing experience, but also completely subverts consumers' perception of traditional clothing. This paper introduced the progress of the application of 3D printing from the aspect of traditional clothing and smart clothing through two mature 3D printing technologies normally used in the field of clothing, and summarized the challenges and prospects of 3D printing technology in the field of smart clothing. Finally, according to the analysis of the gap between 3D-printed clothing and traditionally made clothing due to the material limitations, this paper predicted that the rise in intelligent materials will provide a new prospect for the development of 3D-printed clothing. This paper will provide some references for the application research of 3D printing in the field of smart clothing.

Mutation analysis of the TGFBI gene in pedigrees of lattice corneal dystrophy in Eastern China.

BACKGROUND: To delineate the mutations of the TGFBI gene in Eastern China by whole-exome sequencing (WES) in eight Chinese families with lattice corneal dystrophy (LCD). MATERIALS AND METHODS: This retrospective study included eight families with LCD from Eastern China. Clinical features were examined using slit-lamp examination, anterior segment optical coherence tomography, and in vivo confocal microscopy. Peripheral blood samples of probands were collected for WES, and saliva samples from family members were collected for TGFBI screening using Sanger sequencing. The physicochemical effects of mutations were investigated using bioinformatics tools. RESULTS: Family 1 presented a classic LCD I with a p.R124C mutation of the TGFBI gene, while the other seven families were diagnosed with LCD IIIA. Six of the seven LCD IIIA families had heterozygous single-gene mutations (p.A546D, p.L565 H, p.T621P), and one had a compound heterozygous (cis) mutation (p.P501T and p.N622 H). The mutation of p.L565 H was the first time of integrated family report in contrast to the cases reported in 2019, and the p.T621P mutation was first reported in a Chinese population. Notably, the family with the compound mutation was associated with an obvious early-onset (in the 2nd decade of life) compared to the LCD IIIA patients with each single mutation (p.P501T or p.N622 H) showing late-onset (in the 7th decade of life). CONCLUSIONS: WES is efficient for the genomic testing of LCD and genetic relationship identification in different families with the same mutated gene. We identified a compound heterozygous mutation (p.P501T and p.N622 H) and two mutations (p.T621P and p.L565 H) uncommon in China.

Ethambutol-induced optic neuropathy with rare bilateral asymmetry onset: A case report.

BACKGROUND: Ethambutol-induced optic neuropathy (EON) most commonly manifests as bilateral symmetrical loss of vision and often cause serious and irreversible visual impairment because of the lack of early detection and effective treatment. We followed a case of EON with rare binocular asymmetric clinical manifestations and observed the changes of visual function and retinal structure after drug withdrawal, so as to further understand the clinical characteristics of this disease. CASE SUMMARY: A 54-year-old man complained of gradual visual decline in the left eye. The patient presented with best-corrected visual acuity of 20/20 in the right eye and 20/50 in the left eye. Color vision examination revealed difficulty in reading green color plates in the left eye. The visual field manifested as concentric contraction in the left eye. After nearly a month of drug withdrawal, the right eye had a similar decline in visual function. At the last visit, 19 mo after drug withdrawal, the visual function significantly recovered in both eyes. During follow-up optical coherence tomography (OCT) examination, both eyes manifested the thickness of the retinal nerve fiber layer from mild thickening to thinning and finally temporal atrophy, and the ganglion cell-inner plexiform layer showed significant thinning. The difference was that a reversible structural disorder in the outer retina of the nasal macula was detected in the left eye by macular high-definition OCT. CONCLUSION: Nephropathy and high blood pressure, which damage the retinal microcirculation, may cause damage to the outer layer of the retina. Ethambutol may influence photoreceptor as well as retinal ganglion cells.

Vitrectomy with residual internal limiting membrane covering and autologous blood for a secondary macular hole: A case report.

BACKGROUND: Myopic foveoschisis (MF) is a common complication of pathological myopia. A macular hole (MH) usually results from the natural progression of MF and is a common complication of vitrectomy. Vitrectomy combined with residual internal limiting membrane (ILM) covering and autologous blood was effective for closing a secondary MH. CASE SUMMARY: A 52-year-old woman presented to our clinic with a complaint of blurred vision in the right eye for 7 years. Her best corrected visual acuity (BCVA) was 20/100, axial length was 25.79 mm and standard equivalent refractive error was -10.5 dioptres. Preoperative optical coherence tomography revealed foveoschisis in the right eye. Vitrectomy with fovea-sparing ILM peeling was performed. An MH developed and gradually expanded 5 mo after the initial vitrectomy. Vitrectomy with residual ILM covering and autologous blood was performed. The MH closed 3 wk after the second vitrectomy. CONCLUSION: Fovea-sparing ILM peeling can provide residual ILM for the treatment of MH secondary to vitrectomy for MF. Vitrectomy combined with residual ILM covering and autologous blood is effective for closing secondary MH and improving BCVA.

Characterisation of macular superficial vessel density alteration in preclinical ethambutol-induced optic neuropathy using optical coherence tomography angiography.

AIM: To investigate the changes in macular vessel density (mVD) and its relationship to macular ganglion cell-inner plexiform layer (mGCIPL) thickness in patients receiving ethambutol (EMB) therapy for tuberculosis without recognisable clinical symptoms or signs of EMB-induced optic neuropathy (EON). METHODS: A total of 23 eyes of 13 patients using EMB therapy for 6 months without EON (preclinical EON) as the EMB group, 40 eyes of 23 healthy individuals as the normal control group and 18 eyes of 10 patients with tuberculosis before receiving EMB therapy as the blank control group were retrospectively analysed. The mean peripapillary retinal nerve fibre layer (pRNFL) and mGCIPL thicknesses and mVD were measured using optical coherence tomography angiography. Patients in the EMB group were compared with individuals in the normal and blank control groups, and changes in macular parameters were evaluated. RESULTS: Central circle mVD (cCVD) was significantly lower in the EMB group than in both control groups (generalised estimating equation (GEE), p=0.003 and 0.029, respectively). The mGCIPL thickness in all regions and the mean pRNFL thickness were not significantly different between the EMB group and both control groups (GEE, p=1.000 for all). There were no significant differences in mVD, mGCIPL thickness and mean pRNFL thickness between the normal control and blank control groups (p>0.05). In the generalised linear model analyses, the minimum and inferonasal mGCIPL thicknesses were positively correlated with cCVD in the EMB group (ß=1.285, p=0.003 and ß=0.770, p=0.024, respectively). CONCLUSIONS: cCVD decreased with no changes in mGCIPL and mean pRNFL thicknesses in patients with preclinical EON. The minimum and inferonasal mGCIPL thicknesses were positively correlated with cCVD. cCVD might be an early indicator for monitoring early-stage EMB toxicity.

Bilateral retrocorneal hyaline scrolls secondary to asymptomatic congenital syphilis: A case report.

BACKGROUND: Retrocorneal hyaline scrolls are a rare phenomenon. We report a case of bilateral retrocorneal hyaline scrolls that were likely induced by asymptomatic congenital syphilis. CASE SUMMARY: A 71-year-old woman presented with blurred vision due to cataracts. Slit-lamp microscopy revealed bilateral hyaline scrolls with a dichotomous branching pattern extending to the anterior chamber or rods attaching to the rough posterior surface of the cornea. The patient was positive for syphilis-specific antibodies, with no ocular or systemic evidence of congenital or acquired syphilis. Binocular cataract, retrocorneal scroll, and corneal endothelial gutta were considered. The scroll of the right eye was removed during cataract surgery and further observed using hematoxylin-eosin staining and scanning electron microscopy. The cornea of the right eye remained transparent, and the residual scroll seemed stable, however, the corneal endothelial density declined at 13 mo after surgery. In vivo confocal microscopy revealed coalescence of corneal guttae at the level of the corneal endothelium or adhesion to the posterior surface of the endothelium, with enlarged endothelial cells in both eyes. Activated keratocytes in the stroma and a highly reflective acellular structure at the level of the Descemet's membrane were observed. The removed scroll had a cartilage-like hardness and a circularly arranged fiber-like acellular structure. CONCLUSION: Occult congenital syphilis could induce corneal endothelial gutta and the formation of retrocorneal scrolls without other signs of ocular syphilis.

Analysis of structural injury patterns in peripapillary retinal nerve fibre layer and retinal ganglion cell layer in ethambutol-induced optic neuropathy.

BACKGROUND: We investigated structural injury patterns in the peripapillary retinal nerve fibre layer (p-RNFL) and ganglion cell inner plexiform layer (GCIPL) caused by ethambutol treatment. METHODS: Sixty-four patients undergoing ethambutol treatment at Zhejiang Chinese Medicine and Western Medicine Integrated Hospital were recruited. Fourteen (14) exhibited visual dysfunction (abnormal group), and the remaining 50 had no visual dysfunction (subclinical group). The thickness of the p-RNFL, total macular retina layer and GCIPL were measured using Cirrus-HD Optical coherence tomography (Cirrus-HD OCT, Cirrus high-definition optical coherence tomography), and compared with 60 healthy, age-matched controls. RESULTS: The p-RNFL thickness was similar in both subclinical and control groups. When compared with the control group, p-RNFL thickness in the abnormal group was significantly increased in the inferior and superior quadrants (GEE, P = 0.040, P = 0.010 respectively). In contrast with the subclinical group, p-RNFL thickness in the inferior quadrant was increased in the abnormal group (GEE, P = 0.047). The GCIPL thickness in the inferonasal and inferior sectors was significantly deceased in the subclinical group when compared with controls (GEE, P = 0.028, P = 0.047, respectively). The average and minimum value of GCIPL thickness, and thickness in the superonasal, inferior, inferotemporal, superotemporal and superior sectors were significantly decreased in the abnormal group when compared with controls (GEE, P = 0.016, P = 0.001, P = 0.028, P = 0.010, P = 0.012, P = 0.015, P = 0.010, respectively). The cube average macular thickness (CAMT) in the abnormal group was significantly thinner than controls (GEE, P = 0.027). CONCLUSIONS: GCIPL measurements using Cirrus-HD OCT detected retinal ganglion cell layer loss following ethambutol treatment, before visual dysfunction occurred.

Renal cell carcinoma choroidal metastasis recorded by smartphone with interface eyepiece adapter mounted on slit lamp: A case report.

RATIONALE: Ocular metastasis of renal cell carcinoma (RCC) is rare, and mainly located on the choroid. We report a choroidal metastasis from RCC, which was recorded by a smartphone with an interface eyepiece adapter mounted on a slit lamp. PATIENT CONCERNS: A 45-year-old female presented with 1-month history of painless occlusion of the vision field on the left eye, who had undergone right nephrectomy for RCC 19 months ago. DIAGNOSES: A smooth, hemispherical and brown protrusion was found behind the pupil nasally. An enhanced computed tomography scan of the orbit showed a slightly high-density hemispherical nodule involving the nasal portions of the left eyeball, the enhancement of the lesion was obvious and homogeneous. A metastatic choroidal space-occupying lesion from RCC was highly suspected according to the clinical and radiological findings. INTERVENTIONS: The patient was advised to undergo further treatment, such as radiotherapy. OUTCOMES: The images of choroid metastasis were recorded by the smartphone with the interface eyepiece adapter mounted on the slit lamp handily. CONCLUSIONS: The smartphone with an interface eyepiece adapter mounted on the slit lamp can be widely used to record the precious images in the clinic in a timely manner.

A novel role for Livin in the response to ultraviolet B radiation and pterygium development.

A pterygium is an inflammatory, invasive and proliferative lesion on the ocular surface, which can decrease visual acuity, damage the ocular surface and affect the appearance of the eye. However, the underlying molecular mechanisms of the pathogenesis remain unclear. In the present study, the role of apoptosis­associated protein Livin in the occurrence and development of pterygium was investigated. Primary samples from quiescent or advanced clinical stages of pterygium and normal human conjunctival tissues were used to assess mRNA and protein expression levels of Livin using reverse transcription­quantitative PCR and immunohistochemistry, respectively. Livin was knocked down in pterygium epithelial cells (PECs) using small interfering RNA (siRNA), to investigate the role of Livin in PEC viability, migration, invasion ability and apoptosis. The cell viability, invasion ability and apoptosis of PECs following ultraviolet B (UVB) radiation alone or in combination with Livin silencing were also analyzed. Expression levels of Livin increased in the pterygium tissues compared with those in the normal conjunctiva at both the mRNA and protein levels. Livin expression levels in advanced pterygium were significantly higher compared with those in quiescent pterygium samples. Knockdown of Livin expression levels significantly reduced cell migration, invasion ability and cell viability, and induced apoptosis of PECs. Inhibition of Livin expression in PECs increased the expression levels of caspase­7, caspase­3 and E­cadherin, whereas expression levels of Snail were downregulated. Cell viability and invasion ability in PECs was enhanced following UVB radiation and Livin expression upregulated. UVB irradiation induced cell invasion ability of PECs and this was attenuated by Livin­silencing. Transfection with Livin siRNA also partially recovered the apoptosis rate of PECs, which was reduced by UVB irradiation. In conclusion, Livin was upregulated in pterygium, and UVB radiation functions in the development of pterygium by inducing Livin expression.

Corneal decompensation due to spontaneous absorption of lens and anterior dislocation of lens capsule: A case report.

RATIONALE: Spontaneous absorption of lenses or cataracts is rare. However, lens capsule attachment to the endothelium combined with corneal decompensation can still occur. PATIENT CONCERNS: An 81-year-old male presented with left eye pain and bulbar conjunctival injection for 6 months. Diffuse corneal edema and inferior bullous lesions were observed by slit-lamp microscopy. Following examination with swept-source optical coherence tomography, we could clearly identify a membrane structure adherent to the corneal endothelium, as well as a lens not in situ. In vivo confocal microscopy found decreased corneal endothelial density of 745 ±â€Š46 cells per mm in the left eye. DIAGNOSIS: Lens dislocation and spontaneous absorption, combined with corneal decompensation were diagnosed. INTERVENTIONS: Surgical removal of the membrane structure combined with anterior vitrectomy was performed. OUTCOMES: The patient's symptoms were partly relieved. However, the corneal endothelial decompensation could not be entirely reversed. In vivo confocal microscopy verified that corneal endothelium was in situ and the density was not significantly changed in the left eye. LESSONS: This case study reports a rare dislocation and spontaneous absorption of lens without any trauma or subsequent surgery. Moreover, it demonstrates corneal endothelial decompensation due to the lens capsule adhering to the corneal endothelium. Timely intervention is required to remove the dislocated lens and prevent complications.

Spontaneous rupture of the eyeball due to choroidal metastasis of gastric carcinoma: A case report.

RATIONALE: Although metastatic tumor is the most common intraocular malignancy, choroidal metastasis from gastric cancer is relatively rare. We present the exact course of a spontaneous rupture of the eyeball with choroidal metastasis from gastric carcinoma (GC) and the applied surgical interventions. PATIENT CONCERNS: A 59-year-old male presented with pain and vision loss on his left eye for 6 months. He was diagnosed with GC, for which he received systemic chemotherapy for a year. DIAGNOSES: Preoperative B-scan, color fundus photography, computed tomography, and magnetic resonance imaging showed a choroidal tumor in his left eye. The spontaneous rupture of the corneoscleral limbus from 2 to 5 o'clock, combined secondary glaucoma, exudative retinal detachment and choroidal detachment were found. INTERVENTIONS: The ruptured corneoscleral limbus was sutured and the orbit was lavaged with 0.4% cisplatin during the enucleation. OUTCOMES: Histopathology confirmed high homology of the choroidal metastasis and GC. He survived for 2 months after surgery, without pain or orbital neoplasms. LESSONS: Choroidal metastasis from GC rapidly progressed to spontaneous rupture of the eyeball. Careful eyeball enucleation followed by orbital lavage with chemotherapeutics may reduce metastasis risk beyond the eyeball. Additional therapeutic interventions should be considered in patients resistant to single systemic chemotherapy.

Unilateral inferior oblique anterior transposition for markedly asymmetric dissociated vertical deviation with unilateral inferior oblique over-action.

BACKGROUND: To evaluate the results of unilateral inferior oblique anterior transposition (IOAT) for markedly asymmetric dissociated vertical deviation (DVD) combined with inferior oblique over-action (IOOA). METHODS: Retrospective chart review of the records of all patients with asymmetric DVD combined with unilateral IOOA in the non-dominant eye who received unilateral IOAT on the non-dominant eye. No other muscles were operated on simultaneously. The amount of DVD and IOOA were measured before and after the operation and statistically analysed. RESULTS: Seventeen patients were included. The mean age at surgery was 23.5 ± 8.4 (range 12-38) years old. The mean postoperative follow-up period was 15.7 ± 7.2 (range 6-32) months. The primary position DVD was 19.6 ± 5.4 (range 14-36) PD preoperatively and decreased significantly to 2.9 ± 2.0 (range 0-8) PD postoperatively (P < 0.01). Preoperatively, there were 2, 7, and 8 patients with + 1, + 2, and + 3 IOOA, respectively, and these were reduced from 2.4 ± 0.7 to 0.3 ± 0.4 postoperatively (P < 0.01). None of the patients were complicated obvious hypotropia, anti-elevation syndrome or IOOA in the contralateral eye. CONCLUSIONS: Unilateral IOAT was recommended in patients with asymmetric DVD coexists with unilateral IOOA.

Novel mutations in HSF4 cause congenital cataracts in Chinese families.

BACKGROUND: Congenital cataract, a kind of cataract presenting at birth or during early childhood, is a leading cause of childhood blindness. To date, more than 30 genes on different chromosomes are known to cause this disorder. This study aimed to identify the HSF4 mutations in a cohort from Chinese families affected with congenital cataracts. METHODS: Forty-two unrelated non-syndromic congenital cataract families and 112 ethnically matched controls from southeast China were recruited from the southeast of China. We employed Sanger sequencing method to discover the variants. To confirm the novel mutations, STR haplotypes were constructed to check the co-segregation with congenital cataract. The pathogenic potential of the novel mutations were assessed using bioinformatics tools including SIFT, Polyphen2, and Human Splicing Finder. The pathogenicity of all the mutations was evaluated by the guidelines of American College of Medical Genetics and InterVar software. RESULTS: No previously reported HSF4 mutations were found in all the congenital cataract families. Five novel HSF4 mutations including c.187 T > C (p.Phe63Leu), c.218G > T (p.Arg73Leu), c.233A > G (p.Tyr78Cys), IVS5 c.233-1G > A and c.314G > C (p.Ser105Thr) were identified in five unrelated families with congenital cataracts, respectively. These mutations co-segregated with all affected individuals in each family were not observed in the unaffected family members or in 112 unrelated controls. All five mutations were categorized to be the disease "pathogenic" according to ACMG guidelines and using InterVar software. Mutations in the HSF4 were responsible for 11.90% Chinese families with congenital cataracts in our cohort. CONCLUSIONS: In the study, we identified five novel HSF4 mutations in Chinese families with congenital cataracts. Our results expand the spectrum of HSF4 mutations causing congenital cataracts, which may be helpful for the molecular diagnosis of congenital cataracts in the era of precision medicine.

Antidepressants use and risk of cataract development: a systematic review and meta-analysis.

BACKGROUND: Epidemiological studies suggest that antidepressants use may increase the risk of cataract, but the results are inconclusive. We aimed to examine this association by performing a systematic review and meta-analysis. METHODS: Relevant studies were identified by searching PubMed and Web of Science databases through June 2017. We included studies that reported risk estimates for the association between antidepressants use and cataract risk. A random-effects model was used to calculate the summary odds ratio (OR) with its 95% confidence interval (CI). RESULTS: We identified seven studies of antidepressants use and risk of cataract involving 447,672 cases and 1,510,391 controls. Overall, the combined ORs (95% CIs) of cataract for selective serotonin reuptake inhibitors (SSRIs), serotonin noradrenalin reuptake inhibitors (SNRIs), and tricyclic antidepressants (TCAs) were 1.12 (1.06-1.19), 1.13 (1.04-1.24), and 1.19 (1.11-1.28), respectively. A certain degree of heterogeneity was observed across studies (P < 0.001, I 2 = 92.2% for SSRIs, P = 0.026, I 2 = 67.5% for SNRIs, and P = 0.092, I 2 = 58.0% for TCAs). CONCLUSION: This meta-analysis provides evidence of a significant positive association between antidepressants use and risk of cataract. Because of the heterogeneity and limited eligible studies, further prospective studies are warranted to confirm the preliminary findings of our study.