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Background: ADAMTSL4-related eye disorder is a rare autosomal recessive disease with a wide spectrum of severity and expressivity. We describe the genotypic and phenotypic findings in a cohort of Ohio Anabaptist with a pathogenic ADAMTSL4 gene sequence variation. Methods: Patient phenotypes were gathered from clinical data. Genetic information was collected using clinical exome sequencing followed by Sanger sequencing. Results: Five patients from three Ohio Anabaptist families were determined to have a homozygous recessive ADAMTSL4 20-bp (c.767_786del) sequence variant. All five patients were found to have varying degrees of ectopia lentis and three patients presented with symptomatic lens subluxation. Average age of ectopia lentis diagnosis was 5 years (range 2–7 years). Additional features included persistent pupillary membrane and pupillary margin irregularities. The remaining two patients were asymptomatic and were found to have mild lens subluxation in adulthood, as they were examined following family genetic testing. Twenty-six heterozygous carriers were identified in a database of 1426 Ohio Old Order Amish individuals with an estimated carrier frequency of ~1:54 (allele frequency 0.91%). Discussion: This is the first study to identify an ADAMTSL4 gene mutation in the Anabaptist population. Despite sharing the same genetic mutation, patients presented with a wide range of manifestations. A portion of affected individuals likely remain undiagnosed in the Anabaptist and general populations, especially if they are asymptomatic and only have mild lens subluxation. Implementation of early genetic screenings in high-risk populations can lead to improved awareness and patient outcomes. [ABSTRACT FROM AUTHOR]

Background: This study aimed to investigate the safety and efficacy of the Yamane technique (flanged intrascleral haptic fixation with double-needle technique /FIHFT) for three-piece intraocular lens (IOL) implantation in Egyptian patients diagnosed with Marfan syndrome (MFS) presented with subluxated lenses (ectopia lentis, EL). Methods: This was a retrospective evaluation of thirty-three patients who were diagnosed with MFS and had subluxated lenses in a total of forty eyes. Seven of these patients had bilateral subluxation. Lensectomy or phacoemulsification was performed with limited anterior vitrectomy, followed by IOL implantation using the FIHFT method. Data was collected from medical records, including preoperative and postoperative corrected distant visual acuity (CDVA) using logarithm of the minimal angle of resolution (log MAR), preoperative and postoperative refractions, intraoperative and postoperative complications, and follow-up periods. Results: The mean age of patients in the study was 30.79 years, with a mean follow-up of 23.9 months. Post-surgery, the refractive sphere decreased significantly from -9.1 ± 1.4 diopter (D) to -1.4 ± 0.7 D, and cylinder measurements dropped from -4.5 ± 0.8 D to -1.4 ± 0.6 D. The spherical equivalent (SEQ) also declined from -11.4 ± 1.5 D to -2.1 ± 0.8 D. The CDVA improved from 0.80 ± 0.32 to 0.18 ± 0.10 log MAR (P < 0.001). No intraoperative complications were identified. Postoperative complications included IOL decentration (12.5%), vitreous hemorrhage (7.5%), IOL slippage (5%), IOL tilt (5%), and retinal detachment (RD) (5%). Further surgical procedures were necessary for only four cases (10%), all of which had positive outcomes. IOL tilting and slippage occurring at average ages of 18 and 19 years, respectively. No other complications, such as hypotony, elevated intraocular pressure (IOP), corneal edema, iritis, IOL dislocation, cystoid macular edema (CME) or endophthalmitis, were reported. Conclusions: The Yamane technique has proven effective and safe for treating subluxated lenses in Egyptian patients with Marfan Syndrome, resulting in improved visual acuity with minimal complications, mostly minor and manageable. Comprehensive fundus examinations before and after surgery are essential for promptly identifying retinal breaks and reducing the risk of retinal detachment. IOL tilting and slippage are more common in younger patients. [ABSTRACT FROM AUTHOR]

Background: Geleophysic dysplasia (GD) and Weill–Marchesani syndrome (WMS) are two rare genetic disorders that are classified as acromelic dysplasias and have many common features that overlap clinically and genetically in some patients. Both diseases are characterized by acromelic features, including short stature, brachydactyly, joint limitations, and cardiac involvement. WMS is distinguished from GD mainly by ocular abnormalities, including high myopia, microspherophakia, ectopia lentis, and glaucoma and the absence of the life-threatening airway stenosis and early lethality. These two syndromes are allelic diseases of the FBN1 gene, with the gene families including A Disintegrin and Metalloproteinase with Thrombospondin motifs (ADAMTS) and latent transforming growth factor-beta-binding protein (LTBP). Although the ADAMTSL2 gene has been associated only with GD within the acromelic dysplasias, there have been reports of patients with ADAMTSL2-related GD exhibiting ocular abnormalities that resemble WMS. Methods and Results: We present a 24-year-old female patient with microspherophakia, ectopia lentis, myopia, short stature, joint stiffness, thick skin, short hands and feet, and cardiac valve disease consistent with WMS. The virtual panel analysis, including WMS and GD-related genes, revealed a homozygous c.493 G>A (p.Ala165Thr) variant in the ADAMTSL2 gene (NM_014694.4), which has been previously reported in a geleophysic dysplasia patient. Conclusions: Mounting evidence suggests that GD and WMS may be allelic diseases of the ADAMTSL2 gene. [ABSTRACT FROM AUTHOR]

Abstract Background This study aimed to investigate the safety and efficacy of the Yamane technique (flanged intrascleral haptic fixation with double-needle technique /FIHFT) for three-piece intraocular lens (IOL) implantation in Egyptian patients diagnosed with Marfan syndrome (MFS) presented with subluxated lenses (ectopia lentis, EL). Methods This was a retrospective evaluation of thirty-three patients who were diagnosed with MFS and had subluxated lenses in a total of forty eyes. Seven of these patients had bilateral subluxation. Lensectomy or phacoemulsification was performed with limited anterior vitrectomy, followed by IOL implantation using the FIHFT method. Data was collected from medical records, including preoperative and postoperative corrected distant visual acuity (CDVA) using logarithm of the minimal angle of resolution (log MAR), preoperative and postoperative refractions, intraoperative and postoperative complications, and follow-up periods. Results The mean age of patients in the study was 30.79 years, with a mean follow-up of 23.9 months. Post-surgery, the refractive sphere decreased significantly from -9.1 ± 1.4 diopter (D) to -1.4 ± 0.7 D, and cylinder measurements dropped from -4.5 ± 0.8 D to -1.4 ± 0.6 D. The spherical equivalent (SEQ) also declined from -11.4 ± 1.5 D to -2.1 ± 0.8 D. The CDVA improved from 0.80 ± 0.32 to 0.18 ± 0.10 log MAR (P

Purpose: To demonstrate a case report of successful implantation of multifocal IOL in patients with Marfan syndrome.Materials and methods. A young patient with Marfan’s syndrome asked to the clinic. Examination revealed ectopia of the lens in both eyes. Given his active lifestyle and the desire to get rid of glasses, he was offered surgical treatment with implantation of a multifocal IOL. Lens phacoemulsification was performed with implantation of a modified capsular tension ring, and a trifocal IOL (PanOptix) in the bag.Results. In the late postoperative period, the maximum corrected visual acuity for near in the right eye was 0.9, in the left — 0.8; for the average distance — 0.7 on both eyes; for the distance on the right eye — 1.0, on the left — 0.8.Conclusion. This clinical case demonstrated that in some cases, ectopia of the lens in Marfan syndrome is not a contraindication to the implantation of a multifocal IOL.

Background: Homocystinuria (HCU) is a rare metabolic disease that affects many organs, including the eyes. Aims: to assess visual functions, ocular characteristics, visual quality of life and time from the onset of ocular manifestations to HCU-diagnosis in patients with HCU. Material and methods: Eighteen patients underwent ophthalmological examinations and visual quality of life questionnaires. Results: Best corrected decimal visual acuity was median 1.0 (range amaurosis - 1.3) right eye and 1.0 (range amaurosis -1.3) left eye. Five patients presented with severe myopia as first HCU manifestation, duration to HCU diagnosis was mean 13.6 years (range 2-25). Two patients had suffered ectopia lentis as first HCU manifestation, HCU diagnosis was established mean 8.0 years (range 7-9) later. One patient had suffered both from thrombosis and ectopia lentis prior to diagnosis. Another four patients suffered thromboembolic events before diagnosis. Median VFQ-25 composite score was 93 (68-98). Conclusions: The prevalence of myopia, ectopia lentis and monocular blindness was high in HCU-patients, which was reflected in their visual quality of life. Diagnosis was often delayed after the first ocular manifestation, increasing the risk of other severe non-ocular complications. [ABSTRACT FROM AUTHOR]

The cardinal phenotypic hallmarks of Marfan syndrome (MFS) include cardiac, ocular, and skeletal abnormalities. Since the clinical phenotype of MFS is highly heterogeneous, with certain symptoms appearing as children age, the diagnostic process and establishing a genotype-phenotype association in childhood MFS can be challenging. The lack of sufficient childhood studies also makes it difficult to interpret the subject. This study aims to evaluate the relationship between clinical symptoms used as diagnostic criteria and FBN1 variations in children with MFS. This study investigated the relationships between genotypes and phenotypes in 131 children suspected of having Marfan syndrome (MFS). Diagnosis of MFS was made according to the revised Ghent nosology. FBN1 variants were categorized based on exon regions, type of variant, and pathogenicity classes. These FBN1 variants were then correlated with the clinical manifestations including cardiovascular, ocular, facial, and skeletal abnormalities. Out of the children, 43 were diagnosed with MFS. FBN1 variant was identified in 32 (74.4%) of the MFS children. MFS diagnosis could not be made in five (15.6%) FBN1 variant-positive children. The most common cardinal finding is cardiac anomalies n = 38 (88.3%). The most common FBN1 pathogenic variant was c.1786 T > C/p.Cys596Arg n = 4 (12.5%). The distribution of pathogenic variants was as follows: 29 (90.6%) missense, 2 (6.3%) frameshift, and 1 (3.1%) nonsense. The numbers of AD and EL of the variant-positive children were 16 (50%) and 14 (43.7%), respectively. Ocular abnormalities were more common in children with FBN1-positive MFS (p = 0.009). There was no difference in the number of cardiac abnormalities between FBN1-positive and FBN1-negative MFS patients (p = 0.139). Conclusion: This study examines the relationship between FBN1 variants and clinical features used as diagnostic criteria in MFS children. The findings emphasize the importance of long-term monitoring of heterogeneous clinical phenotypes and bioinformatic reanalysis in determining the genotype-phenotype relationship in children, as MFS symptoms can vary with age. What is Known: • Marfan syndrome has highly variable phenotypic heterogeneity. • The genotype-phenotype relationship in childhood Marfan syndrome is not clear enough due to the variation in the time of onset of the findings. What is New: • This article provides regional data for the field of research on genotype-phenotype relationships in childhood Marfan syndrome. • Long-term follow-up of clinical findings and bioinformatics reanalysis is an important requirement for a well-established genotype-phenotype relationship in childhood Marfan syndrome. [ABSTRACT FROM AUTHOR]

Purpose: We report the successful surgical treatment of a case of spontaneous complete anterior crystalline lens luxation in a patient affected by retinitis pigmentosa (RP), associated with elevated intraocular pressure and pupillary block. Additionally, we review the current literature regarding the association between ectopia lentis and RP. Case description: A 44-year-old female RP patient presented to our emergency department reporting severe ocular pain in her left eye (LE) and sickness. She had no history of ocular trauma and did not report systemic disorders. The best corrected visual acuity at presentation was 1/20 in her LE, the intraocular pressure was 60 mmHg, and slit lamp examination showed in her LE a complete dislocation of the lens in the anterior chamber, with mydriasis, atalamia, and a pupillary block. The patient had been administered intravenous mannitol 18% solution and dorzolamide–timolol eye drops and was hospitalized for urgent lens extraction. Anterior segment optical coherence tomography and ultrasound biomicroscopy were performed before surgery. Decompressive 23-gauge pars plana vitrectomy and phacoemulsification were performed, and the capsular bag was removed due to marked zonular weakness, with deferred intraocular lens implant. Conclusions: Acute angle closure glaucoma in patients with RP may be rarely caused by spontaneous anterior lens dislocation. To our knowledge, this is the first report of spontaneous anterior lens dislocation in an RP patient, documented through photographs, anterior segment optical coherence tomography, and ultrasound biomicroscopy. [ABSTRACT FROM AUTHOR]

Objective To report the incidence of intraocular lens (IOL) dislocation after modified capsular tension ring (MCTR) and IOL implantation in patients with Marfan syndrome (MFS) and ectopia lentis, and to report the clinical characteristics of MFS patients who underwent IOL repositioning or extraction in our hospital. Methods MFS patients who had undergone MCTR implantation by the same surgeon at our hospital from January 2015 to June 2020 were included. They were followed up for more than 3 years postoperatively to analyze the incidence of IOL dislocation. Patients with MFS and IOL dislocation who were treated at our hospital during the same period were retrospectively reviewed to analyze their clinical characteristics and surgical options.Results A total of 115 patients (192 eyes) who had undergone MCTR implantation by the same surgeon were included in this study, with the majority being children (80.21%, 154/192). The median follow-up time was 4 years (IQR: 3.50, 4.67). During the follow-up period, there were 3 cases of MCTR IOL complex dislocation, with 2 cases of subluxation and 1 case of total dislocation, resulting in an incidence rate of 1.56% (3/192). All of them were adults, and the occurrence of IOL dislocation was about 2 to 3 years postoperatively, with no obvious precipitating factors, and the direct cause was suture breakage. During the same period, a total of 16 MFS patients underwent IOL repositioning or extraction in our center. The most common direct cause of IOL dislocation was suture breakage (62.50%, 10/16), followed by suture or intraocular bag hook slipping between the scleral stroma (18.75%, 3/16). For patients with subluxation of CTR or MCTR, re-fixation of the tension ring with sutures or insertion of intraocular bag hooks could achieve IOL repositioning; patients with MCTR dislocation into the vitreous body underwent MCTR removal and scleral-fixated IOL implantation; for other patients previously receiving other IOL implantation methods, the majority underwent IOL reposition(54.55%, 7/13), a minority underwent IOL exchange (30.77%, 4/13), and 2 cases underwent IOL extraction without replacement.Conclusion MCTR implantation is a safe and effective surgical method for treating ectopia lentis in MFS patients, with IOL dislocation being a rare complication. Regular follow-up and lifelong monitoring are essential for MFS patients postoperatively, and early intervention for IOL dislocation can achieve good therapeutic effects. [ABSTRACT FROM AUTHOR]

Purpose: Subluxation of the crystalline lens (Ectopia Lentis, EL) can lead to significant visual impairment and serves as a diagnostic criterion for genetic disorders such as the Marfan syndrome. There is no established criterion to diagnose and quantify EL. We prospectively investigated the distance between the zonular fibre insertion and the limbus (ZLD) in healthy subjects as a parameter to assess the position of the lens, quantify EL and provide normative data. Methods: This prospective, observational, cross-sectional study includes one-hundred-fifty eyes of 150 healthy participants (mean age 28 years, range 4–68). Pupils were dilated with tropicamide 0.5% and phenylephrine 2.5% eyedrops. ZLD was measured in mydriasis at the slit lamp as the distance between the most central visible insertions of the zonular fibres on the lens surface and the corneoscleral limbus. Vertical pupil diameter (PD) and refractive error were recorded. If zonular fibre insertions were not visible, the distance between limbus and the pupillary margin was recorded as ZLD. Results: 145 right and 5 left eyes were examined. 93% of study subjects were Caucasian, 7% were Asian. In eyes with visible zonular fibre insertions (n = 76 eyes), ZLD was 1.30 ± 0.28 mm (mean ± SD, range 0.7–2.1) and PD was 8.79 ± 0.57 mm (7.5–9.8). In the remaining 74 eyes, ZLD was 1.38 ± 0.28 mm (0.7–2.1), and PD was 8.13 ± 0.58 mm (6.7–9.4). For all eyes, ZLD was 1.34 ± 0.29 mm (0.7–2.1), and PD was 8.47 ± 0.66 mm (6.7–9.8). Refractive error and sex did not significantly affect ZLD. Smaller PD and older age were associated with larger ZLD (P < 0.001 and P = 0.036, respectively). Conclusion: Average ZLD was 1.34 mm in eyes of healthy subjects. Older age correlated with larger ZLD. These normative data will aid in diagnosing and quantifying EL. [ABSTRACT FROM AUTHOR]

PURPOSE: To study the clinical presentations, visual, and refractive profiles of children with congenital ectopia lentis in a large cohort of patients from a tertiary eye care network in India. MATERIALS AND METHODS: A retrospective review of electronic medical records from December 2012 to December 2020 was conducted. Two hundred and ninety‑seven consecutive children ≤18 years of age at presentation were identified and analyzed for demographic details, patient distribution, lens subluxation, visual, and refractive profiles before and after the interventions. RESULTS: Five hundred and ninety‑four eyes of 297 (male 56%; n = 166) patients were analyzed. The mean age at presentation was 8.74 ± 3.89. Best‑corrected visual acuity (BCVA) at presentation ranged from 0.3 logMAR to 3.5 logMAR; (Snellen: 6/9 – close to face [CF]) (mean 0.89 ± 0.68). High myopia (n = 201; 33.83%) and mild astigmatism (n = 340; 57.23%) were more frequent. Temporal (n = 108; 18.18%) subluxation was most common followed by superior. Lensectomy with limited vitrectomy was performed in 243 eyes of 127 patients (40.90%). Median preoperative BCVA was 1.0 (range: 0.3–3.5 logMAR; 20/40 ‑ CF). Median postoperative BCVA was 0.5 logMAR (6/18) in the pseudophakic group and 0.6 logMAR (6/24) in the aphakic group. Spherical equivalent in myopic children reduced from −12.06 ± 6.84D to −1.57D (−0.25D to − 5.5D) in the pseudophakic group and +9.3D (+5.5D to 15.5D) in the aphakic group. CONCLUSION: This study is a large cohort of children presenting with ectopia lentis. Following intervention, an improvement in the median BCVA and refractive correction was noted in the entire cohort. [ABSTRACT FROM AUTHOR]

PurposeTo report a case of congenital ciliary body cysts causing microspherophakia, ectopia lentis, and secondary angle closure glaucoma in an infant.ObservationsA 16-month-old male was found to have bilateral ciliary body cysts associated with zonular laxity or absence causing microspherophakia and ectopia lentis as demonstrated on multimodal imaging. Additionally, the patient had secondary angle closure glaucoma which was likely multi-factorial related to both lens abnormalities and anterior displacement of the iris from the cysts themselves. The patient underwent lensectomy and cyst removal which resulted in intraocular pressure stabilization and visual rehabilitation.Conclusions and importanceCongenital ciliary body cysts are a rare cause of lens abnormalities and secondary angle closure glaucoma in children. Information regarding genetic underpinnings or systemic associations is limited.

PURPOSE: To study the clinical presentations, visual, and refractive profiles of children with congenital ectopia lentis in a large cohort of patients from a tertiary eye care network in India. MATERIALS AND METHODS: A retrospective review of electronic medical records from December 2012 to December 2020 was conducted. Two hundred and ninety-seven consecutive children ≤18 years of age at presentation were identified and analyzed for demographic details, patient distribution, lens subluxation, visual, and refractive profiles before and after the interventions. RESULTS: Five hundred and ninety-four eyes of 297 (male 56%; n = 166) patients were analyzed. The mean age at presentation was 8.74 ± 3.89. Best-corrected visual acuity (BCVA) at presentation ranged from 0.3 logMAR to 3.5 logMAR; (Snellen: 6/9 – close to face [CF]) (mean 0.89 ± 0.68). High myopia (n = 201; 33.83%) and mild astigmatism (n = 340; 57.23%) were more frequent. Temporal (n = 108; 18.18%) subluxation was most common followed by superior. Lensectomy with limited vitrectomy was performed in 243 eyes of 127 patients (40.90%). Median preoperative BCVA was 1.0 (range: 0.3–3.5 logMAR; 20/40 - CF). Median postoperative BCVA was 0.5 logMAR (6/18) in the pseudophakic group and 0.6 logMAR (6/24) in the aphakic group. Spherical equivalent in myopic children reduced from −12.06 ± 6.84D to −1.57D (−0.25D to − 5.5D) in the pseudophakic group and +9.3D (+5.5D to 15.5D) in the aphakic group. CONCLUSION: This study is a large cohort of children presenting with ectopia lentis. Following intervention, an improvement in the median BCVA and refractive correction was noted in the entire cohort.

Ectopia lentis is a hallmark of Marfan syndrome (MFS), a genetic connective tissue disorder affecting 1/5000 to 1/10 000 individuals worldwide. Early detection in ophthalmology clinics and timely intervention of cardiovascular complications can be lifesaving. In this study, a modified proteomics workflow with liquid chromatography‐tandem mass spectrometry (LC‐MS/MS)‐based data‐independent acquisition (DIA) and field asymmetric ion mobility spectrometry (FAIMS) to profile the proteomes of aqueous humor (AH) and lens tissue from MFS children with ectopia lentis is utilized. Over 2300 and 2938 comparable proteins are identified in AH and the lens capsule, respectively. Functional enrichment analyses uncovered dysregulation of complement and coagulation‐related pathways, collagen binding, and cell adhesion in MFS. Through weighted correlation network analysis (WGCNA) and machine learning, distinct modules associated with clinical traits are constructed and a unique biomarker panel (Q14376, Q99972, P02760, Q07507; gene names: GALE, MYOC, AMBP, DPT) is defined. These biomarkers are further validated using advanced parallel reaction monitoring (PRM) in an independent patient cohort. The results provide novel insights into the proteome characterization of ectopia lentis and offer a promising approach for developing a valuable biomarker panel to aid in the early diagnosis of Marfan syndrome via AH proteome. [ABSTRACT FROM AUTHOR]

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Hyperhomocysteinemia (HHcy) is recognized as an independent risk factor for various significant medical conditions, yet controversy persists around its assessment and management. The diagnosis of disorders afffecting homocysteine (Hcy) metabolism faces delays due to insufficient awareness of its clinical presentation and unique biochemical characteristics. In cases of arterial or venous thrombotic vascular events, particularly with other comorbidities, it is crucial to consider moderate to severe HHcy. A nutritional approach to HHcy management involves implementing dietary strategies and targeted supplementation, emphasizing key nutrients like vitamin B6, B12, and folate that are crucial for Hcy conversion. Adequate intake of these vitamins, along with betaine supplementation, supports Hcy remethylation. Lifestyle modifications, such as smoking cessation and regular physical activity, complement the nutritional approach to enhance Hcy metabolism. For individuals with HHcy, maintaining a plasma Hcy concentration below 50 μmol/L consistently is vital to lowering the risk of vascular events. Collaboration with healthcare professionals and dietitians is essential for developing personalized dietary plans addressing the specific needs and underlying health conditions. This integrated approach aims to optimize metabolic processes and reduce the associated health risks. [ABSTRACT FROM AUTHOR]

Purpose: To report the application of a refined total capsular bag suspension technique for lens subluxation from Cystathionine beta-synthase (CBS) deficiency. Observations: A 15-year-old CBS deficiency male patient with a history of intracranial venous thrombosis presented to our clinic due to bilateral vision loss. The patient was treated with lens aspiration, intraocular lens (IOL) implantation, and total capsular bag suspension in both eyes respectively. During the six months postoperative follow-up, the patient exhibited improved visual acuity and minor refractive error. Conclusions and importance: The refined total capsular bag suspension technique is recommended for CBS deficiency patients with lens subluxation as a safe and effective surgical approach.

Purpose: We report the successful surgical treatment of a case of spontaneous complete anterior crystalline lens luxation in a patient affected by retinitis pigmentosa (RP), associated with elevated intraocular pressure and pupillary block. Additionally, we review the current literature regarding the association between ectopia lentis and RP. Case description: A 44-year-old female RP patient presented to our emergency department reporting severe ocular pain in her left eye (LE) and sickness. She had no history of ocular trauma and did not report systemic disorders. The best corrected visual acuity at presentation was 1/20 in her LE, the intraocular pressure was 60 mmHg, and slit lamp examination showed in her LE a complete dislocation of the lens in the anterior chamber, with mydriasis, atalamia, and a pupillary block. The patient had been administered intravenous mannitol 18% solution and dorzolamide–timolol eye drops and was hospitalized for urgent lens extraction. Anterior segment optical coherence tomography and ultrasound biomicroscopy were performed before surgery. Decompressive 23-gauge pars plana vitrectomy and phacoemulsification were performed, and the capsular bag was removed due to marked zonular weakness, with deferred intraocular lens implant. Conclusions: Acute angle closure glaucoma in patients with RP may be rarely caused by spontaneous anterior lens dislocation. To our knowledge, this is the first report of spontaneous anterior lens dislocation in an RP patient, documented through photographs, anterior segment optical coherence tomography, and ultrasound biomicroscopy.

Kulawan Rojananuangnit,1,&ast; Kitiwan Rojnueangnit2,&ast; 1Glaucoma Unit, Department of Ophthalmology, Mettapracharak (Wat Rai Khing) Hospital, Nakhon Pathom, Thailand; 2Division of Genetics, Department of Pediatrics, Faculty of Medicine, Thammasat University, Pathumthani, Thailand&ast;These authors contributed equally to this workCorrespondence: Kitiwan Rojnueangnit, Division of Genetics, Department of Pediatrics, Faculty of Medicine, Thammasat University, 99/209 Moo 18, Phahonyothin Road, Pathumthani, 12120, Thailand, Tel +66-2-926-9514, Fax +66-2-926-9513, Email rkitiwan@tu.ac.thBackground: Bilateral secondary angle closure glaucoma is a presenting symptom of microspherophakia and ectopia lentis. Characterizing the associated syndrome and confirmation by genetic testing can identify associated systemic abnormalities and provide appropriate genetic counseling.Case Presentation: A 42-year-old woman with severe intellectual disability presented with light perception visual acuity and glaucoma, with intraocular pressure (IOP) in her right and left eyes of 69 and 70 mmHg, respectively. She underwent two sessions of 270-degree laser diode transscleral cytophotocoagulation treatment at a 6-month interval and was prescribed topical anti-glaucoma medication. Her family noticed a progressive decrease in her vision while on treatment for 2 years. She was diagnosed with apparent Weill-Marchesani syndrome, accompanied by angle closure glaucoma and microspherophakia. Cataract surgery and intraocular lens implantation were successful in both eyes and post-operative IOP was controlled with anti-glaucoma medication but her vision did not improve from severe glaucomatous optic neuropathy. Her underlying syndrome was investigated genetically by whole exome sequencing.Results: Sequencing showed a pathogenic variant in ARID1B, c.3955dupC (p.Gln1319Profs&ast;14), diagnostic of Coffin-Siris syndrome. This is the first report of Coffin-Siris syndrome associated with microspherophakia and angle closure glaucoma.Conclusion: Bilateral angle closure glaucoma from ectopia lentis in patients with genetic syndromes could be an indicator of microspherophakia in adulthood. Ophthalmological surveillance is important in patients with Coffin-Siris syndrome.Keywords: angle closure glaucoma, ARID1B, Coffin-Siris syndrome, ectopia lentis, intellectual disability, microspherophakia

Abstract Ectopia lentis is a hallmark of Marfan syndrome (MFS), a genetic connective tissue disorder affecting 1/5000 to 1/10 000 individuals worldwide. Early detection in ophthalmology clinics and timely intervention of cardiovascular complications can be lifesaving. In this study, a modified proteomics workflow with liquid chromatography‐tandem mass spectrometry (LC‐MS/MS)‐based data‐independent acquisition (DIA) and field asymmetric ion mobility spectrometry (FAIMS) to profile the proteomes of aqueous humor (AH) and lens tissue from MFS children with ectopia lentis is utilized. Over 2300 and 2938 comparable proteins are identified in AH and the lens capsule, respectively. Functional enrichment analyses uncovered dysregulation of complement and coagulation‐related pathways, collagen binding, and cell adhesion in MFS. Through weighted correlation network analysis (WGCNA) and machine learning, distinct modules associated with clinical traits are constructed and a unique biomarker panel (Q14376, Q99972, P02760, Q07507; gene names: GALE, MYOC, AMBP, DPT) is defined. These biomarkers are further validated using advanced parallel reaction monitoring (PRM) in an independent patient cohort. The results provide novel insights into the proteome characterization of ectopia lentis and offer a promising approach for developing a valuable biomarker panel to aid in the early diagnosis of Marfan syndrome via AH proteome.

PURPOSE: The purpose of the study was to describe the visual outcomes of anterior chamber iris--claw intraocular lens (IOL) implantation in pediatric ectopia lentis. MATERIALS AND METHODS: A retrospective review was conducted on the medical records of children with ectopia lentis who underwent primary anterior iris--claw IOL implantation at a national referral hospital in Indonesia in the years 2013-2020. Primary outcomes include visual acuity (VA) and postoperative complications. Postoperative data were collected at 1-year follow-up. RESULTS: A total of 26 eyes of 17 patients were included, the average age at surgery was 9 (5-14) years. Uncorrected VA significantly improved (P = 0.000) from an average of 1.6 ± 0.35 logMAR preoperatively to 0.7 ± 0.33 logMAR postoperatively, best-corrected VA also significantly improved, and 77% of eyes that achieved a postoperative best-corrected VA of 0.3 logMAR. Postoperative complications were reported in three eyes, including elevated intraocular pressure, IOL de-enclavation, severe inflammation, and endophthalmitis; all cases were promptly treated and had good visual outcomes. The mean onset of complications was roughly 3 months (77 ± 129 days) after surgery. CONCLUSION: Anterior iris--claw implantation in children with ectopia lentis appear to be effective in achieving good visual outcome. With its relatively simple technique, anterior iris--claw implantation can potentially serve as a favorable option for the treatment of pediatric ectopia lentis. Long-term prospective research with larger sample sizes is needed. [ABSTRACT FROM AUTHOR]

PURPOSE: The purpose of the study was to describe the visual outcomes of anterior chamber iris–claw intraocular lens (IOL) implantation in pediatric ectopia lentis. MATERIALS AND METHODS: A retrospective review was conducted on the medical records of children with ectopia lentis who underwent primary anterior iris–claw IOL implantation at a national referral hospital in Indonesia in the years 2013–2020. Primary outcomes include visual acuity (VA) and postoperative complications. Postoperative data were collected at 1-year follow-up. RESULTS: A total of 26 eyes of 17 patients were included, the average age at surgery was 9 (5–14) years. Uncorrected VA significantly improved (P = 0.000) from an average of 1.6 ± 0.35 logMAR preoperatively to 0.7 ± 0.33 logMAR postoperatively, best-corrected VA also significantly improved, and 77% of eyes that achieved a postoperative best-corrected VA of 0.3 logMAR. Postoperative complications were reported in three eyes, including elevated intraocular pressure, IOL de-enclavation, severe inflammation, and endophthalmitis; all cases were promptly treated and had good visual outcomes. The mean onset of complications was roughly 3 months (77 ± 129 days) after surgery. CONCLUSION: Anterior iris–claw implantation in children with ectopia lentis appear to be effective in achieving good visual outcome. With its relatively simple technique, anterior iris–claw implantation can potentially serve as a favorable option for the treatment of pediatric ectopia lentis. Long-term prospective research with larger sample sizes is needed.

Traboulsi syndrome is a multi-organ disorder typically characterized by pleiotropic manifestations including facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB). It is caused by mutations in the candidate gene ASPH, which encodes an enzyme aspartyl/asparaginyl beta-hydroxylase involved in the hydroxylation of the epidermal growth factor domain (EGFD). It is a rare monogenic disorder, inherited in an autosomal recessive manner. In recent years, many rare genetic disorders have been identified without established registries, which poses a major public health challenge. Consequently, diagnosing and treating rare disorders requires a thorough understanding of their predisposition factors. This review provides an in-depth understanding of genetic aetiology, pathophysiology, and possible disease management approaches contributing to Traboulsi syndrome.

Purpose: To evaluate the outcomes of lensectomy with a glued intraocular lens (IOL) in spherophakic eyes with secondary glaucoma and assess factors associated with failure. Methods: We prospectively evaluated outcomes of lensectomy with glued IOL in 19 eyes with spherophakia and secondary glaucoma (intraocular pressure (IOP) ≥22 mm Hg and/or glaucomatous optic disc damage) between 2016 and 2018. The vision, refractive error, IOP, antiglaucoma medications (AGMs), optic disc changes, need for glaucoma surgery, and complications were assessed. Success was defined as complete when IOP was ≥5 and ≤21 mmHg without AGMs; qualified success as similar IOP with up to 3 AGM; the need for >3AGM/additional surgery for IOP control was considered a failure. Results: Preoperatively, the median (interquartile range: IQR) age was 18 (13.5–30) years. IOP was 16 (14–22.5) mmHg on a median of 3 (2,3) AGMs. Median postoperative follow up was 27.7 months (11.9, 39.7). Postsurgery, most patients achieved emmetropia, with significantly decreased refractive error from a median spherical equivalent of −12.5D to + 0.5D, P < 0.0002. The complete success probability was 47% (95% confidence intervals (CIs): 29–76%) at 3 months and was 21% (8 − 50%) at 1 year and 3 years. The qualified success probability was 93% (82–100%) at 1 year, which reduced to 79% (60–100%) in 3 years. None of the eyes had any retinal complications. The higher number of preoperative AGM was found to be a significant risk factor (p < 0.02) for the failure of complete success. Conclusion: One-third of the eyes had IOP control without the need for AGM postlensectomy with glued IOL. Surgery resulted in significant improvement in visual acuity. The higher number of preoperative AGM was associated with poor glaucoma control after glued IOL surgery.

Marfan's syndrome (MFS) is an autosomal dominant connective tissue disorder with defect in the fibrillin-1 gene. The most common ocular manifestation is subluxated lens in the superotemporal direction, accounting for 50%–85% of total cases. The association of lens coloboma with MFS has been described in literature, but the coexistence of lens coloboma with ectopia lentis is a rare feature. Here, we describe three cases of MFS including a case of bilateral lens coloboma with ectopia lentis: case 1 – a 39-year-old male with inferotemporal lens subluxation in the right eye and superotemporal lens subluxation in the left eye with open-angle glaucoma and high myopia, case 2 – a 15-year-old child with bilateral superonasal lens subluxation with lens coloboma, and case 3 – a 56-year-old female with bilateral lens coloboma. Case 1 and case 2 had clear lenses with good refractive correction; hence, they were optically rehabilitated with contact lenses, whereas case 3 was advised for cataract surgery. It is important to distinguish the lens coloboma from a more common entity, ectopia lentis as former usually remains stable while the latter might need a surgical intervention.

Rami A Al-Dwairi,1 Wisam A Shihadeh,1 Asem A Alqudah,1 Noor M Alqudah,1 Mohammed Msallam,2 Firas Alrazem,1 Sarah Alshamarti,1 Zaki Shannak,1 Mohammad Abueid,1 Abdelwahab Aleshawi1 1Department of Special Surgery, Division of Ophthalmology, Faculty of Medicine, Jordan University of Science & Technology, Irbid, 22110, Jordan; 2Department of Ophthalmology, King Abdullah University Hospital, Irbid, 22110, JordanCorrespondence: Rami A Al-Dwairi; Abdelwahab Aleshawi, Department of Special Surgery, Division of Ophthalmology, Faculty of Medicine Jordan University of Science and Technology, Irbid, 22110, Jordan, Tel +962795355056 ; +962799273019, Fax +962 2 7201064, Email ramialdwairi@yahoo.com; abdelwahhabjamal@yahoo.comObjective: The management of ocular complications of Marfan’s syndrome, especially ectopia lentis, is challenging. In this study, we present the effectiveness and the safety of iris-claw intraocular lens (IOL) implantation along with lensectomy for those patients. Also, we compare the practice of implanting these IOLs either in the anterior chamber of retropupillary.Methods: Retrospectively, we included all patients with Marfan’s syndrome who underwent lensectomy with iris-claw IOL implantation as a result of ectopia lentis. The patients were categorized into two groups: anterior chamber iris claw IOL and retropupillary iris-claw IOL. The clinical and demographic data, the visual outcome and postoperative complications were compared.Results: Eighteen eyes of 10 patients were included in the study. The mean age of the patients was 19.1 years. Six patients were males. The iris-claw IOL was implanted anteriorly in 13 eyes. The visual outcome was comparable between both groups and most patients achieved improvement in the visual acuity. In addition, the postoperative complications developed similarly in both groups. However, all cases of IOL disenclavation (6 cases) developed in the anterior group. It is revealed that the age of the patient was the most significant factor affecting the occurrence of IOL disenclavation.Conclusion: Iris-claw IOL (either anteriorly or retropupillary) is an effective and relatively safe method in treating ectopia lentis in patients with Marfan’s syndrome. In younger patients, anterior iris-claw IOL is safer than retropupillary iris-claw IOL as the risk of disenclavation is higher in younger patients.Keywords: Marfan’s syndrome, Artisan, retropupillary, ectopia lentis

Abstract Background Isolated sulfite oxidase deficiency (ISOD) caused by sulfite oxidase gene (SUOX) mutations is a rare neurometabolic disease associated with ectopia lentis (EL). However, few genotype–phenotype correlations have been established yet. Methods Potentially pathogenic SUOX mutations were screened from a Chinese cohort of congenital EL using panel-based next-generation sequencing and analyzed with multiple bioinformatics tools. The genotype–phenotype correlations were evaluated via a systematic review of SUOX mutations within our data and from the literature. Results A novel paternal missense mutation, c.205G > C (p.A69P), and a recurrent maternal nonsense mutation, c.1200 C > G (p.Y400*), of SUOX were identified in a 4-year-old boy from 312 probands. The biochemical assays manifested elevated urine sulfite and S-sulfocysteine accompanied by decreased homocysteine in the blood. The patient had bilateral EL and normal fundus, yet minimal neurological involvement and normal brain structure. Molecular modeling simulation revealed the p.A69P mutant had an unstable structure but an unchanged affinity for sulfite, while the truncated p.Y400* mutant showed decreased binding capacity. Genotype–phenotype analysis demonstrated patients with biallelic missense mutations had milder symptoms (P = 0.023), later age of onset (P

Purpose: To evaluate the outcomes of lensectomy with a glued intraocular lens (IOL) in spherophakic eyes with secondary glaucoma and assess factors associated with failure. Methods: We prospectively evaluated outcomes of lensectomy with glued IOL in 19 eyes with spherophakia and secondary glaucoma (intraocular pressure (IOP) ≥22 mm Hg and/or glaucomatous optic disc damage) between 2016 and 2018. The vision, refractive error, IOP, antiglaucoma medications (AGMs), optic disc changes, need for glaucoma surgery, and complications were assessed. Success was defined as complete when IOP was ≥5 and ≤21 mmHg without AGMs; qualified success as similar IOP with up to 3 AGM; the need for >3AGM/additional surgery for IOP control was considered a failure. Results: Preoperatively, the median (interquartile range: IQR) age was 18 (13.5--30) years. IOP was 16 (14--22.5) mmHg on a median of 3 (2,3) AGMs. Median postoperative follow up was 27.7 months (11.9, 39.7). Postsurgery, most patients achieved emmetropia, with significantly decreased refractive error from a median spherical equivalent of -12.5D to + 0.5D, P < 0.0002. The complete success probability was 47% (95% confidence intervals (CIs): 29--76%) at 3 months and was 21% (8 - 50%) at 1 year and 3 years. The qualified success probability was 93% (82--100%) at 1 year, which reduced to 79% (60--100%) in 3 years. None of the eyes had any retinal complications. The higher number of preoperative AGM was found to be a significant risk factor (p < 0.02) for the failure of complete success. Conclusion: One-third of the eyes had IOP control without the need for AGM postlensectomy with glued IOL. Surgery resulted in significant improvement in visual acuity. The higher number of preoperative AGM was associated with poor glaucoma control after glued IOL surgery. [ABSTRACT FROM AUTHOR]

Background: Congenital ectopia lentis (EL) refers to the congenital dysplasia or weakness of the lens suspensory ligament, resulting in an abnormal position of the crystalline lens, which can appear as isolated EL or as an ocular manifestation of a syndrome, such as the Marfan syndrome. The fibrillin‐1 protein encoded by the FBN1 gene is an essential component of the lens zonules. Mutations in FBN1 are the leading causes of congenital EL and Marfan syndrome. Owing to the complexity and individual heterogeneity of FBN1 gene mutations, the correlation between FBN1 mutation characteristics and various clinical phenotypes remains unclear. Methods: This study describes the clinical characteristics and identifies possible causative genes in eight families with Marfan syndrome or isolated EL using Sanger and whole‐exome sequencing. Results: Eight FBN1 mutations were identified in these families, of which three (c.5065G > C, c.1600 T > A, and c.2210G > C) are reported for the first time. Based on in silico analyses, we hypothesized that these mutations may be pathogenic by affecting the fibrillin‐1 protein structure and function. Conclusion: These findings expand the number of known mutations involved in EL and provide a reference for the research on their genotype and phenotype associations. [ABSTRACT FROM AUTHOR]

Non-traumatic ectopia lentis can be isolated or herald an underlying multisystemic disorder. Technological advances have revolutionized genetic testing for many ophthalmic disorders, and this study aims to provide insights into the clinical utility of genetic analysis in paediatric ectopia lentis. Children that underwent lens extraction for ectopia lentis between 2013 and 2017 were identified, and gene panel testing findings and surgical outcomes were collected. Overall, 10/11 cases received a probable molecular diagnosis. Genetic variants were identified in four genes: FBN1 (associated with Marfan syndrome and cardiovascular complications; n = 6), ADAMTSL4 (associated with non-syndromic ectopia lentis; n = 2), LTBP2 (n = 1) and ASPH (n = 1). Parents appeared unaffected in 6/11 cases; the initial presentation of all six of these children was to an ophthalmologist, and only 2/6 had FBN1 variants. Notably, 4/11 cases required surgery before the age of 4 years, and only one of these children carried an FBN1 variant. In summary, in this retrospective cohort study, panel-based genetic testing pointed to a molecular diagnosis in >90% of paediatric ectopia lentis cases requiring surgery. In a subset of study participants, genetic analysis revealed changes in genes that have not been linked to extraocular manifestations and highlighted that extensive systemic investigations were not required in these individuals. We propose the introduction of genetic testing early in the diagnostic pathway in children with ectopia lentis. [ABSTRACT FROM AUTHOR]

Abstract Background Congenital ectopia lentis (EL) refers to the congenital dysplasia or weakness of the lens suspensory ligament, resulting in an abnormal position of the crystalline lens, which can appear as isolated EL or as an ocular manifestation of a syndrome, such as the Marfan syndrome. The fibrillin‐1 protein encoded by the FBN1 gene is an essential component of the lens zonules. Mutations in FBN1 are the leading causes of congenital EL and Marfan syndrome. Owing to the complexity and individual heterogeneity of FBN1 gene mutations, the correlation between FBN1 mutation characteristics and various clinical phenotypes remains unclear. Methods This study describes the clinical characteristics and identifies possible causative genes in eight families with Marfan syndrome or isolated EL using Sanger and whole‐exome sequencing. Results Eight FBN1 mutations were identified in these families, of which three (c.5065G > C, c.1600 T > A, and c.2210G > C) are reported for the first time. Based on in silico analyses, we hypothesized that these mutations may be pathogenic by affecting the fibrillin‐1 protein structure and function. Conclusion These findings expand the number of known mutations involved in EL and provide a reference for the research on their genotype and phenotype associations.

• We identified a novel missense variant c.2075G > A and a recurrent nonsense variant c.1126C > G of ASPH in two pedigrees. • The single-cell expression atlas demonstrated coexpression of ASPH with FBN1, FBN2, and LTBP2 in non-pigmented ciliary epithelial cells. • Molecular modeling simulation of p.G692D revealed increased affinity to the cb EGF-like domain and destabilization of the calcium-binding motif. • Genotype-phenotype analysis revealed that patients with cardiac involvement all harbored biallelic truncation variants. Traboulsi syndrome is an under-recognized syndromic form of ectopia lentis (EL) caused by the aspartate beta-Hydroxylase (ASPH) variant. The genotype-phenotype profile of ASPH-associated disease is poorly understood due to the rarity of the condition. We conducted targeted next-generation sequencing and bioinformatics analysis to identify potentially pathogenic ASPH variants in the cohort. Furthermore, we characterized the expression pattern of ASPH and major components of the zonules using single-cell RNA-sequencing (scRNA-seq) and evaluated the genotype-phenotype correlations by combining our data and those from the literature. We identified a novel missense variant c.2075G > A (p.G692D) and a recurrent nonsense variant c.1126C > G (p.R376*) of ASPH in two pedigrees from a Chinese cohort of EL. Both probands were 5-year-old boys with canonical facial dysmorphisms and bilateral anteriorly-dislocated lenses. Other ocular comorbidities included microspherophakia, shallow anterior chamber, and narrow chamber angel. No cardiac involvements or filtering blebs were identified. The single-cell expression atlas of ciliary epithelium demonstrated the coexpression of ASPH with FBN1 , FBN2 , and LTBP2 in the non-pigmented ciliary epithelium cells. Furthermore, molecular modeling simulation of p.G692D revealed increased affinity to the cb EGF-like domain and a subsequent destabilized calcium-binding motif. The genotype-phenotype analysis demonstrated that patients with cardiac involvements all harbored biallelic truncation variants. The data from this study provide new insights into the genotype-phenotype profile of ASPH -associated disease and implicate the potential role of ASPH in the pathogenesis of EL. [ABSTRACT FROM AUTHOR]

Purpose: To compare the functional outcome of retropupillary iris claw lenses (RPIC-IOL) and scleral fixated intraocular lenses (SFIOL) in children with large lens subluxations. Methods: Sixty eyes of patients between 6 and 18 years of age having >7 clock hour lens subluxation were included and equally divided into group A (RPIC-IOL implantation) and group B (Gore-Tex sutured SFIOL implantation). Cases with anterior and posterior segment abnormalities, trauma and glaucoma were excluded. Primary outcome was improvement in best-corrected visual acuity (BCVA) at 1.5 years. Secondary outcomes were assessment of intraocular lens (IOL) tilt, mean change in astigmatism at 1.5 years, and median operating time. All surgeries were performed by the same surgeon. Results: The mean improvement in BCVA in group A was 0.28 ± 0.41 logMAR and group B was 0.44 ± 0.45 logMAR (P = 0.3). Significant IOL tilt was seen in 4 eyes in group A (13.33%) and 5 eyes in group B (16.66%) (P = 0.120). Mean change in astigmatism was 4.38 ± 5.9D in group A and 4.91 ± 4.4D in group B (P = 0.299). The median operating time was 40 min in group A and 90 min in group B (P < 0.001). No significant posterior segment complications were seen in either technique. Conclusion: Both procedures had comparable visual outcomes. RPIC-IOL implantation was relatively quick and comparatively easier; it may be preferred in cases with high risk of retinal detachment.

We herein describe the kissing MVR technique in cases of microspherophakia for safe and effective endocapsular lens aspiration. Microspherophakia is associated with abnormally lax and broken zonules, which pose a great challenge to the operating surgeon, especially while creating the openings in the capsular bag. In this novel technique, simultaneous use of two 23 G MVR blades reduces the above problem associated with the severely mobile lens. Here, one MVR blade stabilizes the capsular bag and, at the same time, provides counter-traction for the opposite MVR blade while puncturing the capsular bag. Furthermore, the creation of openings in the lens at the equator or just posterior to it is beneficial as the capsule is relatively thicker and stronger at this location. This also minimizes the risk of premature extension to the anterior or posterior capsule, thereby avoiding complications like dropped lens matter, vitreous prolapse, and vitreous traction.

Microspherophakia is a rare developmental abnormality of the crystalline lens with a myriad of ocular and systemic associations. Glaucoma is a serious complication associated with this disorder. Early identification of the disease, timely visual rehabilitation, and appropriate management of the lens and glaucoma can help us prevent blindness from this condition. Multidisciplinary care with lifelong follow-up is recommended, as this typically affects the younger population. Current treatment protocols for this condition are mainly based on case reports and retrospective studies with shorter follow-up. Due to the rarity of this disease, designing a large randomized controlled trial to identify the merits and demerits of each management strategy is challenging. With cataract, glaucoma, and vitreoretinal specialists, each having their preferred way of managing microspherophakic lenses, we decided to do a comprehensive review of the existing literature to devise an integrated approach toward effective management of these patients. This review will collate all evidence and provide a very practical decision-making tree for its management.

Homocystinuria is a rare metabolic inborn disorder caused due to dysfunctional cystathionine β-synthase (CBS) enzyme activity, thus resulting in elevated levels of methionine and homocysteine in the blood and urine. The timely recognition of this rare metabolic disorder and prompt methionine-restricted diet are crucial in lessening the systemic consequences. The recalcitrant cases have a higher risk for cardiovascular diseases, neurodegenerative diseases, neural tube defects, and other severe clinical complications. This review aims to present the ophthalmic spectrum of homocystinuria and its molecular basis, the disease management, as well as the current and potential treatment approaches with a greater emphasis on preventive strategies.

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.

ADAMTSL4 variants are one of the common causes of congenital ectopia lentis (EL), reported ocular comorbidities of which include iris anomalies, cataract, and glaucoma. However, a genotype–phenotype correlation has not been established. Potentially pathogenic ADAMTSL4 variants were screened from a Chinese cohort of congenital EL using panel‐based next‐generation sequencing followed by multiple bioinformatics analyses. The genotype–phenotype correlation was assessed via a systematic review of ADAMTSL4 variants within our data and those from the literature. A total of 12 variants of ADAMTSL4, including seven frameshift variants, one nonsense variant, two splicing variants, and two missense variants, were found in nine probands. Combing genetic and clinical information from 72 probands in the literature revealed 37 ADAMTSL4 variants known to cause EL, and the ethnic difference was prominent. The lens was inclined to dislocate inferior temporally (22, 27.16%), while the pupil was always located oppositely (9, 81.82%). Several anterior segments anomalies were identified, including ectopia pupillae (15, 18.52%), persistent pupillary membrane (9, 11.10%), poor pupil dilation (4, 30.8%), cataract (13, 24.10%), and glaucoma (8, 13.33%). Genotype–phenotype analysis revealed that truncation variants had higher risks of combined iris anomalies, including either ectopia pupillae or a persistent pupillary membrane (p = 0.007). The data from this study not only extend our knowledge of the ADAMTSL4 variant spectrum but also suggest that deleterious variants of ADAMTSL4 might be associated with severe ocular phenotypes. [ABSTRACT FROM AUTHOR]

Introduction: The prevalence of Weill-Marchesani syndrome (WMS) is estimated to be 1:100.000 proportion of the population. Knowledge of the clinical and therapy of WMS is expected to improve the ability to diagnose this disease. In this case report, we will present a case of WMS in a tertiary hospital because our findings are rare and essential concerning the symptomatic treatment and visual rehabilitation. Case Presentation: A 7-year-old child presented with blurred vision in the left eye. The patient showed an abnormal facial appearance with short stature and brachydactyly on both hands. The patient had a history of Intracapsular cataract extraction (ICCE) surgery on the right eye with an indication of anterior lens subluxation. The patient then suffered aphakic glaucoma in the right eye after surgery. Anterior segment examination of the right eye found an aphakic lens, conjunctival sclerectasia, atrophic iris, and mid-dilation pupil. Anterior segment of the left eye found an atrophic iris and lens subluxation. From the clinical appearance and the ocular disturbance, such as brachydactyly and short stature, the patient was diagnosed with suspected WMS. The patient was treated with ICCE surgery on the left eye and micropulse transscleral cyclophotocoagulation (MP-TSCPC) surgery on the right eye. Conclusion: WMS is a rare disease. It is essential to make an early diagnosis of glaucoma and ectopia lentis in WMS patients because it will affect their vision. [ABSTRACT FROM AUTHOR]

Background: Isolated sulfite oxidase deficiency (ISOD) caused by sulfite oxidase gene (SUOX) mutations is a rare neurometabolic disease associated with ectopia lentis (EL). However, few genotype-phenotype correlations have been established yet.Methods: Potentially pathogenic SUOX mutations were screened from a Chinese cohort of congenital EL using panel-based next-generation sequencing and analyzed with multiple bioinformatics tools. The genotype-phenotype correlations were evaluated via a systematic review of SUOX mutations within our data and from the literature.Results: A novel paternal missense mutation, c.205G > C (p.A69P), and a recurrent maternal nonsense mutation, c.1200 C > G (p.Y400*), of SUOX were identified in a 4-year-old boy from 312 probands. The biochemical assays manifested elevated urine sulfite and S-sulfocysteine accompanied by decreased homocysteine in the blood. The patient had bilateral EL and normal fundus, yet minimal neurological involvement and normal brain structure. Molecular modeling simulation revealed the p.A69P mutant had an unstable structure but an unchanged affinity for sulfite, while the truncated p.Y400* mutant showed decreased binding capacity. Genotype-phenotype analysis demonstrated patients with biallelic missense mutations had milder symptoms (P = 0.023), later age of onset (P < 0.001), and a higher incidence of regression (P = 0.017) than other genotypes. No correlations were found regarding EL and other neurological symptoms.Conclusion: The data from this study not only enrich the known mutation spectrum of SUOX but also suggest that missense mutations are associated with mild and atypical symptoms. [ABSTRACT FROM AUTHOR]

We herein describe the kissing MVR technique in cases of microspherophakia for safe and effective endocapsular lens aspiration. Microspherophakia is associated with abnormally lax and broken zonules, which pose a great challenge to the operating surgeon, especially while creating the openings in the capsular bag. In this novel technique, simultaneous use of two 23 G MVR blades reduces the above problem associated with the severely mobile lens. Here, one MVR blade stabilizes the capsular bag and, at the same time, provides counter-traction for the opposite MVR blade while puncturing the capsular bag. Furthermore, the creation of openings in the lens at the equator or just posterior to it is beneficial as the capsule is relatively thicker and stronger at this location. This also minimizes the risk of premature extension to the anterior or posterior capsule, thereby avoiding complications like dropped lens matter, vitreous prolapse, and vitreous traction. [ABSTRACT FROM AUTHOR]

Marfan and Weill-Marchesani syndromes have a mutation of the fibrillin gene (FBN1), producing alteration of connective tissue, within ophthalmology, it is important to take into consideration this type of diseases in cogenetic alterations in this system will produce modifications at the level of the ocular structures generating problems of various types, Most of the literature refers to ectopia lentis and the complications derived from it, as secondary glaucoma. We present two patients, one with Marfan syndrome and the other with Weill-Marchesani syndrome, who developed lens dislocation, typical of their pathologies, which led them to undergo different surgeries. Both developed suture dehiscence after these surgeries, as a complication derived from their connective tissue involvement. We thus highlight the need for vigilance and extreme caution in the postoperative period of patients affected by this type of syndromes., (Copyright © 2024 Sociedad Española de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.)