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Although several inherited ocular disorders have been extensively studied in horses, few reports of equine ectopia lentis exist and no genetic investigations have been reported. Ectopia lentis in humans and other species is reported to be caused by trauma, genetic variants, and systemic diseases. The most commonly reported genetic causes are dominant alleles in FBN1 . Here we examined a 3-day old Oldenburg x Thoroughbred colt due to concerns over bilateral ocular anomalies and hypothesized that either a recessively inherited allele or a dominant de novo allele was the genetic cause. Examination revealed bilateral microphakia and spherophakia with medioventral lens subluxation. Histopathology of the globes was consistent with ectopia lentis. Whole genome sequencing of the affected foal was conducted, and forty-six candidate genes were evaluated for SNVs and small INDELS. Testing both hypotheses, 82 variants were identified, of which 69 were present in publicly available data from 504 horses and not investigated further. Of the 13 remaining variants, two variants were found in 3’ UTRs ( ADAMTS17 and OAF ), ten were intronic, and one was a coding variant located in the FBN1 gene encoding fibrillin-1 (FBN1:p.(Ala882Val)). This variant was also computationally predicted to be deleterious to protein function, including in silico modelling of FBN1 which suggests that 882Val impacts disulfide bond formation by Van der Waals clashing in a hybrid domain of the protein. The affected foal was confirmed by Sanger sequencing to be heterozygous for this variant and his clinically unaffected dam, reportedly unaffected sire, and five paternal half-siblings were homozygous for the reference allele. Additionally, the homologous human substitution is reported to be pathogenic, causing Marfan syndrome with a dominant mode of inheritance, of which ectopia lentis is a common feature. These findings support the de novo hypothesis with FBN1 :p.(Ala882Val) as the likely cause of ectopia lentis in this foal, the first genetic explanation for this condition in the horse. Given the role of FBN1 in ectopia lentis in humans and other species, FBN1 should be evaluated as a potential candidate when other horses with this condition are identified.

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.

Marfan syndrome (MFS) is a hereditary disease with an incidence of 0.3% in the general population. Approximately 60% of MFS patients with FBN1 gene mutation will suffer ectopia lentis (EL) from the age of 3. With the development of EL, severe loss of vision will accrue because of lens tilt and glaucoma. Cionni modified capsular tension rings (MCTR) has been applied in the surgery for EL in MFS patients. To evaluate visual acuity and safety of using MCTR during lens subluxation surgery in MFS patients, 66 MFS patients (110 eyes) were included in our study, with the mean duration of follow-up of 4.7 months (SD 1.76 months). The capsular bags were preserved in 101 eyes (91.81%) with MCTR implantation. There was an overall significant improvement in BCVA at 1-month follow-up which was maintained at 3 months. Multivariable linear regression revealed that older age at first visit was associated with greater postoperative BCVA at the 1-month follow-up ( P  = 0.007). A significant difference was found between different degrees of lens subluxation and the length of surgical time and complications. At follow-up, only two eyes (1.98%) were identified to have developed retinal detachments. In conclusion, better visual outcomes can be achieved when patients received an early operation with MCTR implantation.

BackgroundCongenital 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.MethodsA 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.ResultsA 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 (β = 0.901, 95% CI: 0.822 ~ 0.980, P < 0.001) and in non-surgery group (β = 1.006, 95% CI: 0.977 ~ 1.034, P < 0.001) in CEL patients. Surgical treatment (β = 2.635, 95% CI: 1.376 ~ 3.894, P < 0.001) was associated with slower myopic shift in all participants CEL patients.ConclusionsMyopic 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.

Ectopia cordis is a rare congenital defect with high mortality, and it remains challenging to radiologists, neonatologists and surgeons. CT angiography provides key information that aids in the decision-making process for possible surgical intervention. This pictorial essay describes CT angiography features in six neonates with ectopia cordis.

Background Congenital ectopia lentis (CEL) is a rare ophthalmic disorder characterized by partial or complete dislocation of the lens, leading to significant visual impairment. The etiology is complex, often involving genetic factors and systemic diseases. Early diagnosis and treatment are crucial to prevent complications and preserve the patient’s vision. Case presentation This report presents a case of a 7-year-and-6-month-old Chinese male patient with congenital ectopia lentis. The patient had a history of high myopia from an early age and poor corrected vision. Diagnostic evaluations included slit-lamp biomicroscopy, biometry, retinal OCT, corneal thickness measurement, corneal topography, and ultrasound examinations. Additionally, whole exome sequencing (WES) was performed to identify gene mutations potentially linked to the clinical manifestations. Imaging studies revealed bilateral lens dislocation accompanied by corneal astigmatism and vitreous opacities. Genetic testing detected a known pathogenic missense mutation (c.3209G > A) in the FBN1 gene, associated with Marfan syndrome. A variant of uncertain significance (VUS) in the COL2A1 gene, potentially related to Stickler syndrome, was also identified. Conclusion The diagnosis of congenital ectopia lentis can be confirmed through a combination of imaging studies and genetic testing, particularly when associated with systemic diseases. Imaging techniques help determine the extent of lens dislocation and related complications, while genetic testing provides critical insights into the underlying genetic causes. Early diagnosis and intervention are essential to reduce the risk of complications and improve patients’ quality of life.

Purpose: To evaluate safety and clinical outcomes of the sutureless intrascleral one-piece intraocular lens (SSF IOL) fixation in patients with Marfan syndrome (MFS) presenting with ectopia lentis. Methods: This retrospective, longitudinal, non-comparative case series was a multicenter study involving Ophthalmology Departments at three tertiary care centers in Italy. Fifteen eyes from 10 patients (4 males, 6 females; mean age 29.13 ± 16.96 years) diagnosed as having Marfan syndrome underwent lensectomy and implantation of the SSF one-piece IOL (FIL SSF; Soleko). Patients were followed up for 12 months postoperatively. Primary outcomes included corrected distance visual acuity (CDVA), IOL tilt (35-MHz ultrasound biomicroscopy), and endothelial cell density (ECD). Intraoperative and postoperative complications were recorded. Results: All surgeries were performed uneventfully, and no intraoperative complications occurred. CDVA improved significantly from 0.50 to 0.09 logarithm of the minimum angle of resolution (logMAR) (P = .0001). At 12 months postoperatively, the mean IOL tilt was 2.89 ± 0.91 degrees, indicating good centration and stability. No cases of IOL dislocation were reported. ECD showed a statistically significant mean reduction of 257.4 ± 138.2 cells/mm2 (P < .0001), although no corneal decompensation was observed. The postoperative complications included one case of macular edema with subsequent development of an epiretinal membrane and one case of haptic exposure. Conclusions: The SSF implantation of a single-piece IOL appears to be a viable and reproducible option for the successful surgical management of ectopia lentis in patients with MFS.

The zonular fibres are formed primarily of fibrillin-1, a large extracellular matrix (ECM) glycoprotein, and also contain other constituents such as LTBP-2, ADAMTSL6, MFAP-2 and EMILIN-1, amongst others. They are critical for sight, holding the crystalline lens in place and being necessary for accommodation. Zonulopathies refer to conditions in which there is a lack or disruption of zonular support to the lens and may clinically be manifested as ectopia lens (EL)—defined as subluxation of the lens outside of the pupillary plane or frank displacement (dislocation) into the vitreous or anterior segment. Genes implicated in EL include those intimately involved in the formation and function of these glycoproteins as well as other genes involved in the extracellular matrix (ECM). As such, genetic pathogenic variants causing EL are primarily disorders of the ECM, causing zonular weakness by (1) directly affecting the protein components of the zonule, (2) affecting proteins involved in the regulation of zonular formation and (3) causing the dysregulation of ECM components leading to progressive zonular weakness. Herein, we discuss the clinical manifestations of zonulopathy and the underlying pathogenetic mechanisms.

Purpose: To develop a novel intraocular lens (IOL) power calculation formula by predicting the actual lens position (ALP) in patients with Marfan syndrome who have ectopia lentis undergoing IOL implantation. Methods: Patients with Marfan syndrome undergoing in-the-bag IOL implantation or scleral-fixated IOL (SF-IOL) implantation were prospectively recruited. ALP was calculated by adding anterior chamber depth to half of the IOL thickness, measured using the IOLMaster 700 (Carl Zeiss Meditec). A generalized linear model was developed to predict the ALP and integrated into effective lens position (ELP) predictions. A supplementary strategy was adjusting axial length (AL). The proposed formulas were evaluated by refraction prediction error (PE) and its absolute value (AE) and compared with both classic and state-of-the-art formulas. Results: A total of 408 patients (408 eyes) were divided into a training set and a validation set. ALP was significantly correlated with ELP, but the discrepancy increased with longer AL. A significant anterior shift of ALP was observed in the SF-IOL procedure compared to in-the-bag IOL implantation. The ALP prediction model, stratified by AL and surgical procedure, was constructed in the training set. In the validation set, the ALP-based formula demonstrated the highest proportion of AE within 1.00 diopter (D) (83.78% for AL ≤ 24 mm; 92.50% for AL > 24 mm) and significantly reduced extreme PE compared to other formulas. For SF-IOL implantation, the AL-adjusted formula was the most accurate. An online calculator was developed to facilitate its application. Conclusions: The proposed formulas demonstrated superior accuracy for IOL power calculation in patients with Marfan syndrome compared to existing formulas.

Fibrillin is an evolutionarily ancient protein that lends elasticity and resiliency to a variety of tissues. In humans, mutations in fibrillin-1 cause Marfan and related syndromes, conditions in which the eye is often severely affected. To gain insights into the ocular sequelae of Marfan syndrome, we targeted Fbn1 in mouse lens or non-pigmented ciliary epithelium (NPCE). Conditional knockout of Fbn1 in NPCE, but not lens, profoundly affected the ciliary zonule, the system of fibrillin-rich fibers that centers the lens in the eye. The tensile strength of the fibrillin-depleted zonule was reduced substantially, due to a shift toward production of smaller caliber fibers. By 3 months, zonular fibers invariably ruptured and mice developed ectopia lentis, a hallmark of Marfan syndrome. At later stages, untethered lenses lost their polarity and developed cataracts, and the length and volume of mutant eyes increased. This model thus captures key aspects of Marfan-related syndromes, providing insights into the role of fibrillin-1 in eye development and disease.