OBJECTIVE: To evaluate the frequency and severity of depressive and anxiety symptoms and explore possible risk factors among caregivers of children with congenital ectopia lentis (CEL).
METHODS: A prospective cross-sectional study was conducted.
METHODS: 108 patients and 108 informal caregivers (mainly parents) were included. Participants were grouped based on whether patients had systemic abnormalities: group 1 were children without systemic abnormalities and group 2 were children with systemic abnormalities.
METHODS: The 9-item Patient Health Questionnaire (PHQ-9) and the 7-item Generalized Anxiety Disorder Scale (GAD-7) were used to assess depressive and anxiety symptoms, respectively.
RESULTS: More than half of caregivers (51.9%) have depressive or anxiety symptoms of some degree. 38.0% of caregivers suffered from both depressive and anxiety symptoms. 19.4% of caregivers had moderate to severe depressive symptoms (PHQ-9 score ≥10) while 16.7% reported moderate to severe anxiety symptoms (GAD-7 score ≥10). Between the two groups, the mean PHQ-9 and GAD-7 scores significantly differed (p=0.026 in PHQ-9; p=0.018 in GAD-7). The proportion of caregivers with moderate to severe symptoms was greater in group 2 than in group 1. In addition, there was a significant positive correlation between PHQ-9 and GAD-7 scores (r=0.827; p<0.001). Furthermore, best corrected visual acuity in the better eye of patients was positively correlated with both the PHQ-9 and GAD-7 scores (r=0.314, p<0.05 in PHQ-9; r=0.325, p<0.05 in GAD-7).
CONCLUSIONS: Depressive and anxiety symptoms were common in caregivers of children with CEL, especially among those whose children had other systemic disease manifestations or low vision. This study illustrates the importance of depressive and anxiety symptom screening for these caregivers to implement effective psychological interventions and support strategies.

Background/Objectives: To evaluate how the surgical technique and type of implanted intraocular lens influence the postoperative visual acuity and complications in ectopia lentis associated to Marfan syndrome patients. Materials and Methods: The medical records and videos of ectopia lentis surgeries in patients (children and adults) with Marfan syndrome, were retrospectively reviewed and compared. The study included 33 eyes that underwent four different intraocular lens implantation (IOL) techniques: IOL in conjunction with a simple capsular tension ring, IOL in conjunction with a Cionni modified capsular tension ring (m-CTR), two-point scleral IOL fixation and IOL with one haptic in the bag and one haptic sutured to the sclera. Results: Vision significantly improved from a mean preoperative visual acuity of 0.1122 to a mean postoperative visual acuity of 0.4539 in both age groups (p < 0.0001), with no difference in the primary outcome between children and adults. The most common surgical technique used in both age groups was IOL in conjunction with an m-CTR. There was only one major postoperative complication requiring additional surgery. Conclusions: Zonular weakness mainly influenced by age was the most important selection criterion for the surgical approach. Regardless of the technique employed, the postoperative visual acuity was improved in both adults and children.

UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: Mounting evidence suggests that GD and WMS may be allelic diseases of the ADAMTSL2 gene.

OBJECTIVE: 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.
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.
CONCLUSIONS: 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.

Aim: To describe the case of a patient with Marfan syndrome who had bilateral superonasal lens subluxation. Method: The case of a male patient, aged 18, who complained of having impaired vision in both eyes (BE) since he was a toddler, was presented. On examination of the patient, features suggestive of Marfan syndrome were revealed, as well as bilateral intraocular lens subluxation. Results: The patient was refracted and glasses were recommended, which improved his vision. The patient was referred to the cardiology, orthopedic, and dental departments for a multidisciplinary approach to prevent complications and further management. Discussion: Lens subluxation is frequently presented as a primary clinical manifestation of Marfan syndrome. It can vary from asymptomatic, which is seen only after pupillary dilation, to significant subluxation, in which the equator of the lens in the pupillary axis causes diplopia or decreased vision. Conclusion: This case underscored the importance of considering the rare feature of Marfan syndrome.

Marfan syndrome (MFS) is a well-described genetic connective tissue disease that heightens the risk of cardiovascular, ocular, pulmonary, and other emergencies in affected individuals. The wide range of phenotypic presentations, spanning from mild, chronic, and asymptomatic to acute and life-threatening, can pose challenges in diagnosing MFS when disease manifestations are subtle. We report a pathogenetic variant of MFS characterized by subtle systemic findings that was identified only after the patient presented with visual changes and pain associated with angle closure, despite a medical history indicating other pathologies linked to this condition. This case underscores the importance of recognizing the varied and sometimes subtle clinical features of MFS. Vigilance in identifying the constellation of findings associated with MFS can enhance its diagnosis and treatment outcomes by enabling appropriate and timely referrals for prophylactic evaluation and care to address potentially life-threatening complications.

OBJECTIVE: 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).
CONCLUSIONS: 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.

Purpose: To compare the clinical outcomes, feasibility, and safety between groups with sutured and sutureless wound closure in congenital ectopia lentis (CEL) patients. Methods: Patients with CEL who received phacoemulsification combined with intrascleral fixation of capsular hook (CH) and implantation of capsular tension ring (CTR) and in-the-bag intraocular lens (IOL) were included in this study. Results: A total of 68 eyes of 34 patients aged 18 years or younger were enrolled in this study. Incisions of 21 patients (34 eyes) did not require sutures while sutures were applied in 21 patients (34 eyes). Postoperative uncorrected distance visual acuity, best corrected distance visual acuity and intraocular pressure measurements were comparable on follow-up visits (P > 0.05). The magnitude of surgically induced astigmatism was significantly greater (P = 0.001) in the suture group (Median: 0.47; IQ: 1.63, 2.97) than in the sutureless group (Median: 0.88; IQ: 0.63, 1.35). No cases of endophthalmitis and retinal detachment were found postoperatively in either group, while suture-related complications were observed in the sutured group, including loose suture with discomfort in 5 (14.71%) eyes, loose suture with mucus infiltration in 3 (8.82%) eyes. In total, 22 sutures (64.71%) of 34 eyes required removal. Conclusions: Sutureless clear corneal incision in CEL patients can achieve satisfactory clinical results comparable to sutured wound closure in terms of the efficacy and safety. Advantages of this approach are the reduced risk of suture-related complications, no need for additional surgery under general anesthesia for suture removal, and less cost.

Patients with Marfan syndrome have a constellation of clinical features and a heterogeneous phenotype. The purpose of this study is to report a 47-year-old male patient with an unusual variant in the FBN1 gene causing Marfan syndrome. The patient with musculoskeletal, cardiovascular, and ocular findings compatible with Marfan syndrome had an unusual pathogenic mutation on the FBN1 gene. The patient was examined by at least one of the authors (NJI). The patient\'s clinical findings were compatible with Marfan syndrome. Our patient had a unique mutation in the FBN1 gene (c.8054A>G p.His2685Arg) located on exon 65. Next-generation sequencing was done using the Invitae panel. This variant was categorized as one of uncertain significance. This patient\'s variant on the FBN1 gene leading to the syndrome has scant data associated with it and this is the first time it is reported from Puerto Rico.

To determine retinal detachment (RD) risk factors after lens removal surgery in children with Marfan syndrome (MS).
Retrospective, case control study.
This was an institutional case series including children (age <18 years) with MS who underwent lens removal surgery. Clinical and surgical characteristics were extracted from the children\'s electronic files: age, axial length (AL), gender, number of surgeries received, intraocular lens (IOL) implantation at the first surgery, complete removal of the capsular bag, and final best-corrected visual acuity. Risk factors associated with RD occurrence were identified.
Among 158 eyes included (85 children), 35 eyes (22.2%) developed RD during follow-up. Bilateral detachment occurred in 11 patients (45.8%). Age at the time of the lens removal surgery was not different between groups. Children in the RD group had a higher AL (P < .001), longer follow-up, IOL implantation, and capsular residue. Multivariate analysis identified capsular residue (odds ratio, 16.8; 95% CI, 1.9-148.8; P = .01) and AL (odds ratio, 1.3; 95% CI, 1.01-1.7; P = .03) as predictors for RD.
Children with MS and increased AL were more likely to develop an RD after lens surgery. When considering lens removal surgery in a pediatric population presenting with MS, a complete capsular removal seemed to be the safer option regarding RD risk.