Isolated ectopia lentis with partial anterior dislocation and pupillary block: a case report.

BACKGROUND: Ectopia lentis is the dislocation of the natural crystalline lens and usually presents in the setting of trauma or other systemic diseases. Herein, we describe a case of an otherwise healthy four-year-old boy with isolated ectopia lentis whose partial lens dislocation was captured on a smartphone by the patient's father several days prior. CASE PRESENTATION: A four-year-old boy with no past medical, developmental, or trauma history presented with bilateral partial anterior lens dislocation with pupillary block. Initial ophthalmic evaluation two months prior was notable for uncorrected visual acuity at 20/100 OD, 20/250 OS, bilateral iridodenesis, and partially dislocated lenses inferonasally OD and inferiorly OS on slit lamp. Genetic testing found no abnormalities. Ten months later, the patient developed sudden onset of left eye pain. A dislocated lens and temporarily dilated left pupil were captured on a smartphone by the patient's father. He was evaluated 3 days later after a second episode and found to have hand motion vision OS, a fixed 8 mm left pupil with the crystalline lens subluxed into the pupil space and accompanying intraocular pressure OS of 40 mmHg. The lens was surgically removed with a limited anterior vitrectomy. Four and a half years after surgery, visual acuity was 20/125 OS with aphakic correction. The right eye eventually underwent prophylactic lensectomy and was 20/30 in aphakic correction. CONCLUSIONS: This report presents a unique presentation of isolated ectopia lentis with anterior lens dislocation and pupillary block and illustrates the role of smartphone photography in assisting in the triage of eye emergencies.

Longitudinal changes of refractive error in preschool children with congenital ectopia lentis.

BACKGROUND: Congenital ectopia lentis (CEL) is a hereditary eye disease which severely impacts preschool children's visual function and development. This study aimed to evaluate the longitudinal changes in spherical equivalent (SE) refractive error in preschool children with CEL. METHODS: A retrospective cohort study was conducted at Zhongshan Ophthalmic Center, Guangzhou, China. Medical records of CEL patients under 6-year-old who were diagnosed with Marfan syndrome at the initial visit from January 2014 to March 2022 were collected and were divided into surgery and non-surgery groups. Mean change rate of SE in the two groups was evaluated, and the potential associated factors of SE change rate were investigated by mixed-effect regression model. RESULTS: A total of 94 preschool patients from 14 provinces of China were included. Among the 42 children of the surgery group, the mean age with standard deviation (SD) was 5.02 ± 0.81 years and patients experienced a myopic shift of -0.05 ± 0.09 D/month in average. The mean age with SD of the 52 children of the non-surgery group was 4.34 ± 1.02 years, and the mean myopic shift was -0.09 ± 0.14 D/month. The mixed-effect regression model identified that higher degree of myopia at baseline was associated with slower myopic shift both in surgery (ß = 0.901, 95% CI: 0.822 ~ 0.980, P < 0.001) and in non-surgery group (ß = 1.006, 95% CI: 0.977 ~ 1.034, P < 0.001) in CEL patients. Surgical treatment (ß = 2.635, 95% CI: 1.376 ~ 3.894, P < 0.001) was associated with slower myopic shift in all participants CEL patients. CONCLUSIONS: Myopic progression was slower in the surgery group than in the non-surgery group of CEL. Preschool CEL patients who met the surgical indication are suggested being performed with timely surgery to slow down the myopic progression.

Postoperative longitudinal refractive changes in children younger than 8 years with ectopia lentis and Marfan syndrome.

PURPOSE: To evaluate the postoperative longitudinal refractive changes in children younger than 8 years with ectopia lentis and Marfan syndrome (MFS). SETTING: Zhongshan ophthalmic center, Guangzhou, China. DESIGN: Retrospective cohort study. METHODS: Medical data of patients diagnosed with ectopia lentis and MFS that underwent surgery younger than 8 years were collected. Refractive errors and ocular biometric parameters were collected preoperatively and at each follow-up visit. Patients were stratified into groups according to age at surgery, and only the eye operated on first was selected. Multivariate analysis was performed to determine the association between refractive shift and potential risk factors. RESULTS: In total, 54 eyes of 54 patients were enrolled. The median age at surgery was 6.21 years (interquartile range [IQR], 5.25 to 6.85), and the median follow-up was 2.0 years (IQR, 1.2 to 2.8 years). At age 8 years, patients demonstrated a median myopic shift ranged from -1.75 diopters (D) (IQR, -2.75 to -1.00 D) for the 4-year-old group to -0.13 D (IQR, -0.50 to -0.06 D) for the 7-year-old group. Multivariate analysis showed that greater myopic shift was associated with younger age at surgery ( P = .004), male sex ( P = .026), and shorter preoperative axis length ( P = .005). CONCLUSIONS: A tendency toward increasing postoperative myopic was demonstrated in children with ectopia lentis and MFS, with the greatest myopic shift in the younger age groups. If the goal is to reach emmetropia by age 8 years, the immediate postoperative hypermetropic targets should be 1.75 D for age 4 years, 1 D for age 5 years, 0.5 D for age 6 years, and 0 to 0.25 D for age 7 years.

[Endocapsular fixation of intraocular lens in patients with ectopia lentis and Marfan syndrome (case study)]. / Endokapsulyarnaya fiksatsiya intraokulyarnoi linzy pri ektopii khrustalika na fone sindroma Marfana (klinicheskoe nablyudenie).

Modern trends in advancement of phaco surgery techniques in patients with ectopia lentis (including patients with Marfan syndrome) are characterized by the transition from complete removal of the lens (lensectomy) to aspiration of the lens substance and attempts to preserve and reposition the capsular bag. This case study analyzes the results of surgical treatment of bilateral ectopia lentis in a 6-year-old patient with Marfan syndrome. The specifics of microinvasive phaco surgery consisted in capsular bag preservation and endocapsular fixation of the intraocular lens. The article presents the results of ophthalmological observation over a seven-year period.

[Hereditary ectopia lentis: diagnosis and surgical treatment]. / Nasledstvenno obuslovlennye varianty ektopii khrustalika: diagnostika i khirurgicheskoe lechenie.

This review describes hereditary diseases in which ectopia lentis may be present as one of the symptoms, considers the basic diagnostic concepts of lens disposition, and analyzes the options in surgical treatment of ectopia lentis and optical correction of aphakia.

Predicting axial length in patients with Marfan syndrome and ectopia lentis after modified capsular tension ring and intraocular lens implantation.

PURPOSE: To predict the growth of axial length (AL) in patients with Marfan syndrome (MFS) and ectopia lentis (EL). SETTING: Eye and ENT Hospital of Fudan University, Shanghai, China. DESIGN: Consecutive retrospective case series. METHODS: Eyes were evaluated that had modified capsular tension ring and intraocular lens (IOL) implantation. The rate of AL growth (RALG) was calculated using AL divided by log10-transformed age. A multivariate linear regression model of RALG was developed after validation. RESULTS: 128 patients with MFS and EL were enrolled with a median follow-up duration of about 3 years. RALG was independent of age between 3 years and 15 years old ( P = .799) and decreased to 0 thereafter ( P = .878). Preoperative AL was associated with RALG in patients under 15 years old ( P = .003). Beta values for the final model of RALG were as below: intercept (-9.794) and preoperative AL (0.664). The postoperative AL was predicted as: postAL = preAL + RALG × log 10 ([postAge + 0.6]/[preAge + 0.6]). The mean prediction error was -0.003 (95% CI, -0.386 to 0.3791) mm and the mean absolute percentage error was 1.93% (95% CI, 0.73% to 3.14%). A Python-based calculator was developed to use the predicted AL in selecting IOL power and setting undercorrection. CONCLUSIONS: The AL growth of patients with MFS followed a logarithmic pattern and ceased at about age 15. A prediction model of postoperative AL was established for individual MFS patients between 3 and 15 years old, which could potentially optimize the IOL power selection.

Late internalized double-flanged polypropylene with canabrava technique in patient with marfan syndrome.

INTRODUCTION: This paper reports the first occurrence of a late internalized flange due to capsular contraction syndrome after undergoing the double-flanged surgical technique. CASE DESCRIPTION: A 32-year-old woman with Marfan syndrome underwent phacoemulsification using the double-flanged technique in both eyes. Two years postoperatively, a slit lamp examination revealed a capsular bag with anterior phimosis (capsular contraction syndrome) and the external flange internalized. The patient was submitted for a new surgery to re-fixate the capsular bag. The procedure was successfully accomplished. The intraocular lens was centered by the end of the procedure without areas of traction. The patient presented with best corrected visual acuity of 20/25 in both eyes postoperatively. CONCLUSIONS: This paper recounts a successful re-approach of a late internalized double-flange two years after the first procedure in a patient that developed capsular contraction syndrome.

Outcomes of surgical intervention in cases of ectopia lentis.

Purpose: To evaluate the outcomes of surgical intervention in cases of ectopia lentis. Methods: This retrospective study included all cases of ectopia lentis that presented between June 2015 and March 2019 in a tertiary care center. They were reviewed retrospectively. The corrected distance visual acuity (CDVA), severity of lens subluxation, type of surgery, intra-operative and post-operative complication, and specular count were recorded. Results: Seventy-eight eyes of 57 cases with a mean age at surgery of 14.73 years were analyzed. Intra-lenticular lens aspiration was the most common (n-62/78; 79.5%) surgical procedure followed by lens aspiration, intra-capsular cataract extraction, phaco-aspiration, and pars-plana lensectomy. Simultaneous intra-ocular lens (IOL) implantation was performed in 46.2% (n-32/78) of the eyes. The mean CDVA improved from 0.85 ± 0.55 logMAR to 0.44 ± 0.29 logMAR at 6 weeks follow-up. The post-operative CDVA was significantly better in the pseudo-phakic group compared to the aphakic group (p-0.02). The patient's age at the time of surgery and the degree of subluxation did not impact the final visual outcome. Intra-operative complication included vitreous hemorrhage (n-1) and lens matter drop (n-1). Post-operative complications were noted in 26.9% of the eyes (n-21/78) with a higher complication rate in the pseudo-phakic group (p-0.00). A second intervention was required in 7.7% of the eyes (n-6/78). Conclusion: Age and degree of subluxation at the time of surgery do not influence the final visual outcome in cases of ectopia lentis undergoing lens extraction surgery. IOL implantation results in better visual outcomes but is associated with a high complication rate.

Next-generation sequencing panel analysis in 24 Chinese patients with congenital ectopia lentis.

BACKGROUND: Congenital ectopia lentis (CEL) is a rare but serious disease. We use next-generation sequencing to detect genes associated with lens abnormalities in 24 patients with bilateral CEL and search for pathogenic genes and mutation sites. MATERIALS AND METHODS: A total of 24 patients diagnosed with CEL from January 2019 to November 2019 were enrolled in this study, and their clinical data were collected and genome-wide deoxyribonucleic acid was extracted from peripheral venous blood. Targeted gene capture technology was used to obtain 188 exons of lens abnormality-related genes, which were sequenced using a high-throughput method. The mutation sites were determined through data analysis and verified by the Sanger method. According to the data from previous studies, the association between the genotype and clinical phenotype was analysed. RESULT: Of the 24 patients, 23 had mutations in the fibrillin-1 (FBN1) gene, and 20 were diagnosed with Marfan syndrome. The 23 cases of FBN1 mutations were all heterozygous mutations, including 17 missense mutations, 3 splicing variants, 2 exon deletion mutations, 1 codon mutation, and 9 new mutations. A total of 17 mutations were located in the calcium-binding epidermal growth factor domain, including 16 mutations that contained missense mutations of cysteine. In addition, a heterozygous mutation of the gap junction protein alpha 8 (GJA8) gene was detected in one patient. CONCLUSION: In this study, we identified 23 FBN1 gene mutations and 1 GJA8 gene mutation in 24 patients with CEL. Of these, 9 new FBN1 mutations and 14 known mutations were found. The results expanded the mutation spectrum of the FBN1 gene, suggesting that FBN1 mutation may be the main cause of CEL in Chinese patients.

Ectopia lentis surgery in Marfan's syndrome: from "couching" to the use of intracapsular tension rings.

In the course of time, correction of the ectopia lentis in Marfan's syndrome has been approached through quite many surgical techniques. They addressed the iris, or the lens and aimed at increasing the aphakic zone, the opacification or removal of the lens. Although associated to many complications, the first techniques proved the courage and imagination of pioneer surgeons and are worth mentioning. They were steps towards the invention of current techniques and devices that make surgery of ectopia lentis safe, easy, and having a favorable prognosis.

Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype-phenotype analysis.

AIMS: To identify the mutation spectrum and genotype-phenotype correlations of fibrillin-1 (FBN1) mutations in a Chinese cohort with congenital ectopia lentis (EL). METHODS: Patients clinically suspected of congenital zonulopathy were screened using panel-based next-generation sequencing followed by multiplex ligation-dependent probe amplification. All the probands were subjected to thorough ocular examinations. Molecular and clinical data were integrated in pursuit of genotype-phenotype correlation. RESULTS: A total of 131 probands of FBN1 mutations from unrelated families were recruited. Around 65% of the probands were children younger than 9 years old. Overall, 110 distinct FBN1 mutations were identified, including 39 novel ones. The most at-risk regions were exons 13, 2, 6, 15, 24 and 33 in descending order of mutation frequency. The most prevalent mutation was c.184C>T (seven, 5.34%) in the coding sequence and c.5788+5G>A (three, 2.29%) in introns. Missense mutations were the most frequent type (103, 78.63%); half of which were distributed in the N-terminal regions (53, 51.46%). The majority of missense mutations were detected in one of the calcium-binding epidermal growth factor-like domains (62, 60.19%), and 39 (62.90%) of them were substitutions of conserved cysteine residues. Microspherophakia (MSP) was found in 15 patients (11.45%). Mutations in the middle region (exons 22-42), especially exon 26, had higher risks of combined MSP (OR, 5.51 (95% CI 1.364 to 22.274), p=0.017). CONCLUSIONS: This study extended the knowledge of the FBN1 mutation spectrum and provided novel insights into its clinical correlation regarding EL and MSP in the Chinese population.

Adapted Bag-in-the-Lens Implantation Technique in Children with Congenital Ectopia Lentis.

BACKGROUND: Subluxation of the crystalline lens in childhood confronts the surgeon with a dilemma: to operate or to wait and see. Surgery is usually not performed when the subluxation is still limited. However, postponing the surgery increases the surgical difficulty as the capsular bag becomes more difficult to use as a means of support for the intraocular lens (IOL). A large number of children already present a pronounced subluxation at first presentation. In this paper, we describe a technique to optimise centration and fixation of the bag-in-the-lens (BIL) IOL in children younger than 7 years of age with congenital ectopia lentis. METHODS: Between October 2019 and December 2020, we performed lens extraction using a combination of bean-shaped segments to support the BIL IOL and a 6 - 0 polypropylene loop fixated at the sclera, following the Yamane technique, for the purpose of centration. We used this technique for seven eyes of four patients. The patients were between 2 and 6 years old; 3 boys and 1 girl. A definite diagnosis of Marfan syndrome was made for two children; for the other two, there was no proven underlying pathology. The luxation was upwards in all cases. The degree of luxation was severe in all eyes. The preoperative refraction values showed high astigmatism values for all eyes, ranging from 6.5 to 11.25 dioptres. Three out of the four patients were myopic, ranging from - 1.5 to - 9 dioptres. RESULTS: The surgery could be performed without major complications in all eyes. Good centration was obtained, which remained stable in the postoperative period. Refraction improved with greatly diminished degrees of astigmatism (ranging from 0.25 to 3 dioptres) and myopia (spheres ranging from - 2 to + 1.75 dioptres). CONCLUSION: Our novel technique incorporated the BIL technique with the addition of bean-shaped segments and a polypropylene 6/0 suture fixated at the sclera. In this way, we were able to obtain good centration and stability of the implanted IOL, as well as a good refractive outcome in all cases.

Surgical management of an adult patient with Cataract and bilateral Ectopia Lentis: a case report.

A 48-year-old female patient presented to the Ophthalmology Clinic with gradual loss of vision in both eyes over the last year. Upon slit lamp examination, cortical and nuclear opacities of the lens in BE and a 180-degree zonular dehiscence with moderate bilateral superotemporal dislocation of the lens were revealed. After a series of necessary investigations, the patient was admitted for surgery. This case report represents an addition to the diagnosis, challenges and the latest surgical techniques and instruments.

Visual quality observation of clear lens extraction by ultrasonic phacoemulsification and intraocular lens implantation in a child with microspherophakia: A case report.

RATIONALE: Microspherophakia is characterized by a small, spherical crystalline lens with increased sagittal diameter. Because of the uncertainty about the outcome, as well as the complexity of the operation and development of complications, the management and timing of surgical intervention for microspherophakia are still debated. Lens extraction is effective for avoiding the risk of pupillary blockage, but the outcome after operation is controversial. The iTrace (Tracey, USA) report shows the influence of low-order aberrations (LOA) and high-order aberrations (HOA), which may be valuable in predicting postoperative outcome. Our report concerns a child with microspherophakia who underwent lens extraction via the analysis of visual quality by iTrace. PATIENT CONCERNS: Our report is on the case of a 7-year-old girl whose parents observed she had to bring her papers and books extremely close to her face to read. On examination, the girl was bilaterally diagnosed microspherophakia with a small tremble lens. The objective refraction was -15.0 diopter of spherical power (DS)/-1.00 diopter of cylindrical power (DC) × 180 right eye (OD) and -12.5 DS/-1.50 DC × 20 left eye (OS). The HOA of OD and OS were high up to 0.926 and 0.659, respectively by iTrace. The visual quality remained terrible after correcting LOA (high myopia and astigmatism). According to iTrace report, the patient would get a good visual quality by extracting the clear lens with HOA from cornea after correcting LOA. The girl's parent opted for surgery on the left eye. DIAGNOSIS: Due to the patient's symptoms, examination results, she was diagnosed with microspherophakia. INTERVENTIONS: The patient underwent clear lens extraction by ultrasonic phacoemulsification and intraocular lens implantation. OUTCOMES: The first day after operation, total HOA was decreased to 0.077. Total LOA was 0.713. Corrected distance visual acuity (CDVA) is 20/20. One week after surgery, HOA was 0.110 and LOA was 0.328. CDVA was 20/25. CDVA was still 20/25 one month after surgery. The total HOA was 0.110 and the LOA was 0.334 by iTrace. LESSONS: ITrace not only plays an important role in analyzing potential reasons of undesirable preoperative visual quality but also can predict postoperative outcomes. All these functions are helpful for determining surgical intervention of microspherophakia cases.

Diagnosis and treatment of microspherophakia.

As a rare congenital disease, microspherophakia (MSP) is characterized by small and spherically shaped crystalline lenses. The common complications of MSP include secondary glaucoma and crystalline lens dislocation or subluxation. Patients with MSP often show high lenticular myopia. The special morphological characteristics and complex complications bring challenges to the treatment of patients with MSP. Although there are some studies on MSP, most are case reports. In this article, the morphological characteristics, complications, genetic diagnosis, and treatment of MSP were systematically reviewed, providing valuable insight into the clinical diagnosis and treatment of this disease.

Ectopia lentis in Loeys-Dietz syndrome type 4.

Loeys-Dietz syndrome is a heritable disorder of the connective tissue leading to multisystem involvement including craniofacial features, skeletal abnormalities, cutaneous findings and early-onset and aggressive disease of the aorta and its branches. There are multiple types of Loeys-Dietz syndrome related to pathogenic variants in TGFBR1, TGFBR2, SMAD3, TGFB2, and TGFB3. Individuals with Loeys-Dietz syndrome may be misdiagnosed as having Marfan syndrome due to shared phenotypic features and aortic root dilation. However, ectopia lentis has been an important discriminating feature, being unique to Marfan syndrome and not reported to be associated with Loeys-Dietz syndrome. We report the case of a 46-year-old woman with Loeys-Dietz syndrome type 4 due to a pathogenic variant in TGFB2 who was diagnosed with ectopia lentis at age 44. The patient underwent whole exome sequencing and no other pathogenic variants were found to explain the ectopia lentis. Our findings indicate that ectopia lentis may be an uncommon finding in Loeys-Dietz syndrome type 4 and emphasize the importance of genetic testing in familial thoracic aortic aneurysm disease.

OPACIFICATION OF SCLERAL-SUTURED AKREOS AO60 INTRAOCULAR LENS AFTER VITRECTOMY WITH GAS TAMPONADE: CASE SERIES.

BACKGROUND/PURPOSE: We report the first two cases of postoperative opacification of scleral-sutured Akreos AO60 intraocular lens after vitrectomy with the gas tamponade. METHODS: Two patients with ectopia lentis underwent pars plana vitrectomy, pars plana lensectomy, and scleral fixation of an Akreos AO60 intraocular lens with Gore-Tex suture. Retinal breaks were noted during vitrectomy and consequently intravitreal gas tamponade was used after endolaser retinopexy. Postoperatively, both patients developed intraocular lens opacification but maintained excellent visual acuity; however, one patient developed bothersome though tolerable photophobia. CONCLUSION: Although still an excellent option for the management of surgical aphakia in the absence of capsular support, caution should be taken when using a hydrophilic secondary intraocular lens, such as Akreos AO60, during vitreoretinal surgery if gas is required.

Marfan syndrome: Evolving organ manifestations-A 10-year follow-up study.

The age-dependent penetrance of organ manifestations in Marfan syndrome (MFS) is not known. The aims of this follow-up study were to explore how clinical features change over a 10-year period in the same Norwegian MFS cohort. In 2003-2004, we investigated 105 adults for all manifestations in the 1996 Ghent nosology. Ten years later, we performed follow-up investigations of the survivors (n = 48) who consented. Forty-six fulfilled the revised Ghent criteria. Median age: females 51 years, range 32-80 years; males 45 years, range 30-67 years. New aortic root dilatation was detected in patients up to 70 years. Ascending aortic pathology was diagnosed in 93 versus 72% at baseline. Sixty-five percent had undergone aortic surgery compared to 39% at baseline. Pulmonary trunk mean diameter had increased significantly compared to baseline. From inclusion to follow-up, two patients (three eyes) developed ectopia lentis, four developed dural ectasia, four developed scoliosis, three developed incisional or recurrent herniae, and 14 developed hindfoot deformity. No changes were found regarding protrusio acetabuli, spontaneous pneumothorax, or striae atrophicae. The study confirms that knowledge of incidence and progression of organ manifestations throughout life is important for diagnosis, treatment, and follow-up of patients with verified or suspected MFS.