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1.
Zhonghua Yan Ke Za Zhi ; 56(1): 9-12, 2020 Jan 11.
Artigo em Chinês | MEDLINE | ID: mdl-31937057

RESUMO

Primary angle-closure glaucoma (PACG) is the most common type of glaucoma in China. In recent years, lens extraction has gradually become one of the main means of PACG treatment. However, there are still some problems in specific applications. In this article, we analyze the problems and misunderstandings in lens extraction for treatment of PACG in China at present, hoping to achieve reasonable application and better serve patients with glaucoma. (Chin J Ophthalmol, 2020, 56: 9-12).


Assuntos
Catarata/complicações , Glaucoma de Ângulo Fechado/cirurgia , Facoemulsificação/métodos , China , Glaucoma de Ângulo Fechado/diagnóstico , Humanos , Pressão Intraocular/fisiologia , Implante de Lente Intraocular , Lentes Intraoculares , Facoemulsificação/efeitos adversos , Resultado do Tratamento
2.
Zhonghua Yan Ke Za Zhi ; 56(1): 41-46, 2020 Jan 11.
Artigo em Chinês | MEDLINE | ID: mdl-31937062

RESUMO

Objective: To evaluate the rotational stability of the Toric intraocular lens (TIOL) and influencing factors in cataract patients with different axial length. Methods: This retrospective cohort study consecutively enrolled patients who had phacoemulsification and AcrySof TIOL implantation in Peking University Third Hospital from May 2018 to January 2019. Based on axial length, patients were divided into two groups. Group A consisted of patients whose axial length was ≤ 24 mm. Patients whose axial length was >24 mm were included in group B. Data at three months postoperatively were used to evaluate the rotational stability of TIOL and its correlation with axial length, corneal white to white distance, lens thickness and TIOL spherical power. And t test, nonparametric test, chi-square test and Spearman test were used for statistical analysis. Results: Group A enrolled 39 patients (17 males and 22 females), with a median age of 74 years (range, 36-86 years). Group B enrolled 26 patients (11 males and 15 females), with a median age of 68 years (range, 36-86 years). For the efficacy of TIOL, in group A, the best corrected distance visual acuity (BCDVA, logarithm of the minimum angle of resolution) was 0.30 (0.10, 1.00) preoperatively and 0.10 (0.00, 0.60) postoperatively, and the astigmatism was 2.11 (0.95, 5.10) D preoperatively and 1.00 (0.00, 1.75) D postoperatively. In group B, the BCDVA was 0.36 (0.05, 1.00) preoperatively and 0.05 (0.00, 0.40) postoperatively, and the astigmatism was 2.00 (0.78, 3.76) D preoperatively and 0.75 (0.00, 2.25) D postoperatively. Between group A and group B, there were no significant differences in BCDVA (P=0.604) and astigmatism (P=0.789) preoperatively.In these two groups, postoperative BCDVA and astigmatism both significantly improved compared to preoperative parameters (both P<0.01). Between group A and group B, there were no significant differences in BCDVA (P=0.536) and astigmatism (P=0.076) postoperatively. In terms of rotational stability, the rotation in group A was 5.15°±3.62°, and that in group B was 6.50°±4.66°. There was no statistical difference between two groups (P=0.195). As for predictability, the percentage of eyes with rotation ≤5° was 59.0% (23 eyes) in group A and 50.0% (13 eyes) in group B. There was no statistical difference between the two groups (P=0.647). There was no significant correlation between the rotational stability of TIOL and axial length, corneal white to white distance, lens thickness or TIOL spherical power (P=0.836, 0.568, 0.170, 0.365). Conclusions: The rotational stability of TIOL at three months postoperatively in patients whose axial length >24 mm is of no difference with patients whose axial length ≤ 24 mm. It has no correlation with axial length, corneal white to white distance, lens thickness and TIOL spherical power. (Chin J Ophthalmol, 2020, 56: 41-46).


Assuntos
Astigmatismo/cirurgia , Comprimento Axial do Olho , Catarata/complicações , Implante de Lente Intraocular , Lentes Intraoculares , Facoemulsificação , Acuidade Visual/fisiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Astigmatismo/complicações , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Refração Ocular , Estudos Retrospectivos , Resultado do Tratamento
3.
Zhonghua Yan Ke Za Zhi ; 56(1): 47-52, 2020 Jan 11.
Artigo em Chinês | MEDLINE | ID: mdl-31937063

RESUMO

Objective: To compare the keratometric measurements of the Verion image guided system with the partial coherence interferometry (IOLMaster700) and the scheimpflug corneal topography (Pentacam). Methods: In this cross-sectional study, 146 eyes of 88 patients [mean age, (69±10) years; 62 eyes of male patients and 84 eyes of female patients] with cataract were examined before cataract extraction and IOL implantation surgery in the Tenth People's Hospital Affiliated to Tongji University from January 2016 to March 2017. Corneal curvature values acquired by the Verion optical imaging system were compared with the IOLMaster700 and the Pentacam. Keratometric data, magnitude of astigmatism, and steep astigmatic axis measurements from all three instruments were also compared. According to the steep axis of astigmatism, the eyes were divided into groups of with the rule (WTR), against the rule (ATR), and oblique astigmatism. The parameter differences between the Verion and the other devices in the three groups were analyzed. The data were evaluated using repeated measures analysis of variance and Bland-Altman plots. Results: The values of steep keratometry (Ks) of the Verion, IOLMaster700, and Pentacam were (44.60±1.32), (44.73±1.37), (44.43±1.35) D, respectively. The values of flat keratometry (Kf) of the Verion, IOLMaster700, and Pentacam were (43.51±1.41), (43.51±1.52), (43.40±1.45) D, respectively. The values of mean keratometry (Km) of the Verion, IOLMaster700, and Pentacam were (44.60±1.32), (44.12±1.35), (43.92±1.34) D, respectively. The values of astigmatism magnitude were (1.09±0.87), (1.24±1.02), (1.04±0.80) D, respectively. The F values were 1.81, 0.31, 0.93 and 2.22 in relation to Ks, Kf, Km and corneal astigmatism magnitude among the three instruments, respectively (all P>0.05). The 95% confidence intervals of Kf, Ks and astigmatism magnitude between the Verion and the other two devices were -1.10 to 0.80 D, -0.55 to 0.88 D; -1.10 D to 1.10 D, -0.80 to 1.04 D; -1.21 to 0.90 D, -0.92 to 1.02 D. The outcomes were considered acceptable. There were no statistically differences in steep astigmatic axis measurements between the Verion and the other two instruments among the WTR (62 eyes), ATR (45 eyes) and oblique (15 eyes) groups (F=0.63, 0.37; P=0.54, 0.72, respectively). Conclusions: The Verion image guided system is a reliable system for the measurement of keratometry values and astigmatism. The keratometric power, magnitude and steep axis of astigmatism have no significant difference, and there is a good agreement among the Verion, IOL Master 700, and Pentacam. (Chin J Ophthalmol, 2020, 56: 47-52).


Assuntos
Astigmatismo/diagnóstico , Comprimento Axial do Olho , Biometria/instrumentação , Catarata/complicações , Córnea/patologia , Topografia da Córnea , Imagem Óptica/instrumentação , Idoso , Idoso de 80 Anos ou mais , Extração de Catarata , Estudos Transversais , Feminino , Humanos , Lentes Intraoculares , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Cirurgia Assistida por Computador
11.
Curr Opin Ophthalmol ; 31(1): 3-9, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31688227

RESUMO

PURPOSE OF REVIEW: This review aims to cover the preoperative planning, intraoperative considerations, and postoperative management that aids in successful outcomes of patients with cataract and uveitis. Disease-specific management and pediatric management will also be addressed. RECENT FINDINGS: Dexamethasone implants appear to be a safe and effective addition to standard steroid treatment in decreasing the incidence of postoperative cystoid macular edema (CME). Intravitreal steroids and topical difluprednate have shown utility in CME treatment. SUMMARY: Cataract surgery in eyes with uveitis is generally safe and effective if inflammation is well controlled; however, complication rates are still higher than in eyes without uveitis. Future investigations should delineate outcomes for eyes with different etiologies of uveitis, and further research is needed to adequately control inflammation and avoid postoperative complications.


Assuntos
Extração de Catarata , Catarata/complicações , Uveíte/complicações , Administração Oftálmica , Dexametasona/administração & dosagem , Implantes de Medicamento , Fluprednisolona/administração & dosagem , Fluprednisolona/análogos & derivados , Glucocorticoides/administração & dosagem , Humanos , Cuidados Intraoperatórios , Injeções Intravítreas , Edema Macular/prevenção & controle , Cuidados Pós-Operatórios , Cuidados Pré-Operatórios , Uveíte/tratamento farmacológico , Acuidade Visual/fisiologia
12.
Curr Opin Ophthalmol ; 31(1): 61-66, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31770163

RESUMO

PURPOSE OF REVIEW: Age-related cataract occurs when crystallin proteins in the lens partially unfold and subsequently aggregate. Physicians and traditional healers alike have been exploring pharmacologic cataract treatment for hundreds of years. Currently, surgery is the only effective treatment. However, there are an abundance of homeopathic and alternative remedies that have been suggested as treatment for cataract. This article reviews the current understanding of cataract development and discusses several homeopathic remedies purported to treat age-related cataract. Additionally, we will present an overview of evidence regarding the development of pharmacologic cataract reversal therapies. RECENT FINDINGS: Some homeopathic therapies have been shown to prevent cataract development in experimental models. More studies are required to elucidate the potential medicinal and toxic properties of the various alternative therapies. However, in recent years, scientists have begun to investigate substances that address cataract by reversing lens protein aggregation. One such compound, lanosterol, was reported to reverse cataract opacity in vitro and in animal models. Subsequently, 25-hydroxycholesterol and rosmarinic acid were identified as having similar properties. SUMMARY: Although challenges and uncertainties remain, further research has the potential to lead to the development of a nonsurgical therapeutic option for age-related cataract.


Assuntos
Catarata/terapia , Materia Medica , Animais , Antioxidantes/uso terapêutico , Cinamatos/uso terapêutico , Depsídeos/uso terapêutico , Humanos , Hidroxicolesteróis/uso terapêutico
13.
Curr Opin Ophthalmol ; 31(1): 23-27, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31770165

RESUMO

PURPOSE OF REVIEW: Corneal diseases are often associated with lens opacity. The present article reviews the recent advances in the management of cataract and corneal transplant. RECENT FINDINGS: Thanks to the development of lamellar transplant techniques and the evolution of cataract surgery, we now have several strategies to address corneal diseases and cataract including 'lamellar triple procedure'. Numerous precautions have been identified to have a successful surgery with good visual recovery. SUMMARY: Corneal diseases associated with cataract can be successfully managed using separate or combined surgical procedures, as appropriate. In most cases the intraocular lens power can be calculated with a predictable outcome.


Assuntos
Extração de Catarata , Catarata/complicações , Doenças da Córnea/complicações , Transplante de Córnea/métodos , Ceratoplastia Endotelial com Remoção da Lâmina Limitante Posterior , Implante de Lente Intraocular , Humanos
14.
Medicine (Baltimore) ; 98(50): e18417, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31852166

RESUMO

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.


Assuntos
Cápsula Anterior do Cristalino/patologia , Doenças da Córnea/patologia , Subluxação do Cristalino/patologia , Cristalino/patologia , Idoso de 80 Anos ou mais , Catarata/complicações , Doenças da Córnea/etiologia , Doenças da Córnea/cirurgia , Epitélio Posterior , Humanos , Subluxação do Cristalino/diagnóstico , Subluxação do Cristalino/etiologia , Masculino , Microscopia com Lâmpada de Fenda , Vitrectomia
15.
BMC Med Genet ; 20(1): 196, 2019 12 16.
Artigo em Inglês | MEDLINE | ID: mdl-31842807

RESUMO

BACKGROUND: Congenital cataract is a clinically and genetically heterogeneous visual impairment. The aim of this study was to identify causative mutations in five unrelated Chinese families diagnosed with congenital cataracts. METHODS: Detailed family history and clinical data were collected, and ophthalmological examinations were performed using slit-lamp photography. Genomic DNA was extracted from peripheral blood of all available members. Thirty-eight genes associated with cataract were captured and sequenced in 5 typical nonsyndromic congenital cataract probands by targeted next-generation sequencing (NGS), and the results were confirmed by Sanger sequencing. Bioinformatics analysis was performed to predict the functional effect of mutant genes. RESULTS: Results from the DNA sequencing revealed five potential causative mutations: c.154 T > C(p.F52 L) in GJA8 of Family 1, c.1152_1153insG(p.S385Efs*83) in GJA3 of Family 2, c.1804 G > C(p.G602R) in BFSP1 of Family 3, c.1532C > T(p.T511 M) in EPHA2 of Family 4 and c.356G > A(p.R119H) in HSF4 of Family 5. These mutations co-segregated with all affected individuals in the families and were not found in unaffected family members nor in 50 controls. Bioinformatics analysis from several prediction tools supported the possible pathogenicity of these mutations. CONCLUSIONS: In this study, we identified five novel mutations (c.154 T > C in GJA8, c.1152_1153insG in GJA3, c.1804G > C in BFSP1, c.1532C > T in EPHA2, c.356G > A in HSF4) in five Chinese families with hereditary cataracts, respectively. NGS can be used as an effective tool for molecular diagnosis of genetically heterogeneous disorders such as congenital cataract, and the results can provide more effective clinical diagnosis and genetic counseling for the five families.


Assuntos
Catarata/congênito , Catarata/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Mutação , Catarata/fisiopatologia , China , Biologia Computacional , Feminino , Humanos , Masculino , Linhagem , Facoemulsificação , Acuidade Visual
16.
Niger J Clin Pract ; 22(11): 1483-1488, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31719268

RESUMO

Background: Perioperative pulmonary aspiration of gastric contents is a serious complication and causes mortality and morbidity. The study aimed to assess the gastric content of patients undergoing cataract surgery by performing bedside ultrasonography. The secondary aim was to conduct a survey of hospital staff about fasting for cataract surgery. Subjects and Methods: This single-center, cross-sectional study included 65 patients who underwent cataract surgery. The quantitative and qualitative measurements of the gastric content and antral area were performed by gastric ultrasonography in the right lateral decubitus position. The incidence of risk to the stomach was defined according to different threshold levels: content >0.8 ml/kg and 1.5 ml/kg and cross-sectional antral area >340 mm2. A questionnaire was provided to anesthesiologists and ophthalmologists about fasting for cataract surgery. Results: The mean age was 69.48 ± 11.10 years. The mean gastric antrum cross-sectional area (CSA) was 11.08 ± 6.42 cm2. The predicted gastric volume was 103.39 ± 94.79 ml and 1.37 ± 1.20 ml/kg. The antral area CSA and gastric volume/kg decreased as the fasting time increased. About 98.5% of the patients exceeded the high-risk stomach antral cut-off CSA defined as 340 mm2. Gastric content exceeded 0.8 ml/kg in 58.33% of patients and exceeded 1.5 ml/kg in 41.67% of patients. Gastric content in patients was found to be 65.0% solid, 20.0% liquid, and 15.0% empty. All seven ophthalmologists did not apply fasting protocols for cataract surgery. Conclusion: Point of care ultrasonography is a useful, noninvasive tool in determining gastric content and volume. As majority of the patients presented with a full stomach for cataract surgery, we recommend that ophthalmologists and anesthesiologists follow preoperative fasting guidelines for cataract surgery.


Assuntos
Extração de Catarata , Catarata/diagnóstico , Conteúdo Gastrointestinal/diagnóstico por imagem , Complicações Intraoperatórias/prevenção & controle , Antro Pilórico/diagnóstico por imagem , Ultrassonografia/métodos , Idoso , Idoso de 80 Anos ou mais , Jejum/fisiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Sistemas Automatizados de Assistência Junto ao Leito , Cuidados Pré-Operatórios/métodos , Estudos Prospectivos , Estômago/diagnóstico por imagem
17.
Medicine (Baltimore) ; 98(44): e17426, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31689746

RESUMO

RATIONALE: Spherophakia is a rare diagnosis which is often associated with a shallow anterior chamber, angle-closure glaucoma, lens subluxation, and lenticular myopia. When cataracts occur with subluxation of the lens, vision is often markedly affected. This often presents surgeons with a unique challenge of maintaining good visual outcomes while minimizing potential complications. PATIENT CONCERNS: A 48-year-old female was referred for ophthalmological assessment due to decreased vision in the left eye. In the left eye, the best-corrected visual acuity at distance was 20/125 with manifest refraction of -6.5D + (-0.75) D × 118°. The slit lamp examination showed iridodonesis and a significant nuclear cataract (C3N3) with tremor in the left eye. After pupil dilation, a subluxated lens, weak zonules, and "fake golden ring" within the lens was noted. DIAGNOSIS: Due to the patient's symptoms, examination results, she was diagnosed with cataract, subluxation of the lens and spherophakia in left eye. INTERVENTIONS: The patient underwent an uneventful femtosecond laser-assisted cataract surgery (Alcon Fort Worth, TX). The laser was able to perform a circular free-floating anterior capsulotomy and easy lens fragmentation. OUTCOMES: There were no postoperative complications. At 3 months postoperatively, the uncorrected visual acuity was 20/25, and the manifest refraction was -0.25 D - 0.75 D × 148° with the corrected distance visual acuity of 20/16. LESSONS: Femtosecond laser-assisted cataract surgery is an effective approach for cataract surgery in patients with subluxated and spherophakic lenses, with the benefits of causing minimal further zonular damage and easy lens fragmentation.


Assuntos
Extração de Catarata/métodos , Catarata/complicações , Terapia a Laser/métodos , Subluxação do Cristalino/complicações , Cristalino/fisiologia , Feminino , Humanos , Pessoa de Meia-Idade , Acuidade Visual
18.
Vestn Oftalmol ; 135(5. Vyp. 2): 241-247, 2019.
Artigo em Russo | MEDLINE | ID: mdl-31691667

RESUMO

Cataract is one of the common causes of reversible vision loss in people older than 50 years. Currently, the only way to treat it effectively is phacoemulsification with simultaneous implantation of an intraocular lens - a method that minimizes the amount of surgical trauma and the number of intra- and postoperative complications. Nevertheless, the problem of prevention and timely diagnosis of pathological changes in the retina, which may develop after extraction of cataracts, and in particular - macular edema, remains relevant. This problem becomes especially important when it comes to patients with concomitant cataract and glaucoma who use local antihypertensive drugs - in particular, prostaglandin analogues - for a long time. Having common properties with inflammatory mediators, in some cases they can cause vasodilation, increase vascular permeability and contribute to the development of exudative processes. Drugs of this group can cause impairment of the hematophthalmic and hematoretinal barriers provoking the development of cystoid macular edema, including in the early postoperative period after cataract extraction. As described by S. Irvine in 1953, macular edema is related to late postoperative complications and remains one of the main causes of visual impairment after lens removal. The review provides information about some studies concerning the effect of prostaglandin derivatives on the postoperative period after phacoemulsification. At this time, there is no consensus on this matter.


Assuntos
Extração de Catarata , Catarata , Glaucoma , Edema Macular , Facoemulsificação , Humanos , Implante de Lente Intraocular , Complicações Pós-Operatórias
19.
Vestn Oftalmol ; 135(5): 54-60, 2019.
Artigo em Russo | MEDLINE | ID: mdl-31714513

RESUMO

PURPOSE: To perform a comparative analysis of ultrasound and hydrodynamic parameters, and the outcomes of femtosecond laser-assisted cataract surgery (FLACS) and conventional phacoemulsification cataract surgery (CPCS). MATERIAL AND METHODS: This prospective cohort study included 246 eyes. The first group consisted of 138 patients who underwent FLACS, second group - 108 patients after CPCS. RESULTS: Total ultrasound time was 95.36±47.93 and 113.3±97.71 seconds (p=0.04) in the 1st and the 2nd groups, respectively. The duration of torsional ultrasound was 84.72±50.03 seconds in 1st group (p=0.04) and 113.3±97.71 seconds in the 2nd group (p=0.04). Aspiration time was 208.3±95.86 seconds in the 1st group (p=0.04) and 258.43±158.81 seconds in the 2nd group (p=0.04). On the 3-4th day after the surgery, uncorrected distance visual acuity (UDVA) and corrected distance visual acuity (CDVA) were significantly better in the 1st group - 0.62±0.21 (LogMAR 0.20±0.19) and 0.53±0.15 (LogMAR 0.30±0.21) (p=0.01), respectively, compared to the 2nd group with UDVA of 0.75±0.18 (LogMAR 0.10±0.16) and CDVA of 0.69±0.19 (LogMAR 0.20±0.15) (p=0.04). Central corneal thickness (CCT) was 573.41±33.12 and 632.43±58.30 µm in the 1st and 2nd groups, respectively (p=0.020). At 1 month post-op there were no statistically significant differences in UDVA (p=0.17), CDVA (p=0.40) or CCT (p=0.50) between the groups. CONCLUSION: Compared with CPCS, total ultrasound time (p=0.04), torsional ultrasound time (p=0.04) and aspiration time (p=0.04) were significantly lower in the FLACS group. CCT was significantly lower (p=0.02), while UDVA (p=0.04) and CDVA (p=0.01) were significantly higher in the FLACS group in the early post-operative period (3-4 days after surgery). There were no statistically significant differences in the parameters between the groups 1 month after the surgery.


Assuntos
Extração de Catarata , Catarata , Facoemulsificação , Humanos , Terapia a Laser , Estudos Prospectivos
20.
Invest Ophthalmol Vis Sci ; 60(14): 4717-4726, 2019 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-31725171

RESUMO

Purpose: To identify the genetic defect in a four-generation Chinese family that causes autosomal dominant congenital posterior subcapsular cataracts, and to understand how this EPHA2 kinase domain mutation affects EPHA2 activity. Methods: Variants in 54 cataract-associated genes were screened by targeted next generation sequencing (NGS) and then validated by Sanger sequencing. EPHA2 wild-type cDNA was synthesized in vitro, and EPHA2 p.G668D mutant was constructed by PCR site-directed mutagenesis. Western blotting and fluorescence microscopy were used to analyze the expression level of protein and its subcellular localization, respectively. A wound-healing assay was performed to analyze changes to cell migration. Results: A novel heterozygous missense mutation was identified in the kinase domain of the EPHA2 gene (c.2003G>A, p.G668D). This is the third congenital cataract mutation being reported in this domain. Functional study revealed that the kinase domain mutation (p.G668D) decreased EphA2 protein level (P = 0.036) via a proteasome-dependent pathway, altered its subcellular localization of the EphA2 from cell-cell contacts to a diffuse perimembranous distribution, and changed the distribution of ß-catenin as well. The expression of mutant EphA2 significantly promoted the migration of human lens epithelial cells (P = 0.002). Conclusions: Our study presented the evidence for a novel EPHA2 kinase domain mutation that causes congenital posterior subcapsular cataracts. The first functional study on an EPHA2 kinase domain mutation that causes a congenital cataract revealed that the G668D mutation destabilized the receptor, changed its subcellular localization, and altered the activation of EphA2 with its ligand ephrin. The mutant EphA2 resulted in a reduced inhibition of cell migration. As a consequence, the c.G668D mutation promoted cell migration and caused the formation of cataracts.


Assuntos
Catarata/congênito , Catarata/genética , Efrina-A2/metabolismo , Mutação de Sentido Incorreto , Receptor EphA2/genética , Grupo com Ancestrais do Continente Asiático/genética , Western Blotting , Catarata/enzimologia , Catarata/patologia , Movimento Celular/fisiologia , Células Cultivadas , China/epidemiologia , Análise Mutacional de DNA , Células Epiteliais/metabolismo , Feminino , Vetores Genéticos , Células HEK293 , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Lentivirus/genética , Masculino , Microscopia de Fluorescência , Mutagênese Sítio-Dirigida , Linhagem , Plasmídeos , Reação em Cadeia da Polimerase , Receptor EphA2/metabolismo , beta Catenina/metabolismo
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