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Molecular pathogenesis and management strategies of ectopia lentis.

ABSTRACT: Ectopia lentis (EL) is a condition that can either herald underlying systemic conditions, or be isolated. The recent expansion in the genetics of these conditions has furthered the understanding of the underlying molecular aetiology. It is becoming apparent that novel genes, and in particular the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family, are important in ocular development. The common link in these genes seems to be EL. The clinical management of EL is challenging. In particular, the options for addressing surgically induced aphakia in the context of an ectopic capsule are varied. Little evidence exists to direct management of these issues. This review summarises the molecular pathogenesis of EL and conditions associated with it, using the genetic aetiology as a framework. Furthermore, it summarises some of the issues involved in its clinical management.

SUBMITTER: Chandra A

PROVIDER: S-EPMC3930276 | biostudies-literature | 2014 Feb

REPOSITORIES: biostudies-literature

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Molecular pathogenesis and management strategies of ectopia lentis.

Chandra A A Charteris D D

Eye (London, England) 20140110 2

Ectopia lentis (EL) is a condition that can either herald underlying systemic conditions, or be isolated. The recent expansion in the genetics of these conditions has furthered the understanding of the underlying molecular aetiology. It is becoming apparent that novel genes, and in particular the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family, are important in ocular development. The common link in these genes seems to be EL. The clinical management of EL is chall ...[more]

PMID: 24406422

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Surgical management of non-syndromic ectopia lentis.

Project description:AimTo compare whether aphakic contact lenses or secondary iris-claw intraocular lenses are superior in the refractive management post-pars plana vitreolensectomy in a pedigree with an FBN1 mutation causing non-syndromic ectopia lentis (NSEL) with retinal detachment (RD).MethodsEight affected individuals had pars plana vitreolensectomy for bilateral ectopia lentis (EL). Twelve eyes of 6 patients had secondary iris-claw intraocular lenses inserted and 4 eyes of 2 patients were managed with contact lenses. Rhegmatogenous retinal detachment (RRD) was treated when necessary. Pre- and post-operative assessment included visual acuity, endothelial cell count and dilated fundal examination.ResultsMacula-on RRD was present in all individuals >18y, 64% (7/11 eyes) presenting post-vitreolensectomy with 57% having bilateral non-synchronous RRD. Surgical aphakia was managed with iris-fixated intraocular lenses (IOL group, n=6), or contact lenses (CL group, n=2). Visual acuity ≥0.3 logMAR (driving standard) was achieved in 75% of IOL group eyes and 25% of the CL group eyes. Mean loss of corneal endothelial cell count in the IOL group was 4% at 2y post-operative.ConclusionIn this cohort, refractive management with iris-claw IOLs provided superior outcomes to contact lenses and the authors recommend this as the optimal refractive correction in EL patients.

| S-EPMC7321954 | biostudies-literature

Transscleral suture fixation in congenital ectopia lentis

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| S-EPMC10113099 | biostudies-literature

Management of cataracts and ectopia lentis in children: Practice patterns of pediatric ophthalmologists in India.

Project description:PurposeTo analyze the current practice patterns of Indian pediatric ophthalmologists in the management of lens anomalies. This study was conducted in a tertiary eye care hospital and involved an online questionnaire survey for practicing pediatric ophthalmologists in India.MethodsA questionnaire was devised by the authors, which included the various options available for the management of lens anomalies in children. The questionnaire was sent to each of them using an online portal. Commercial software (Stata ver. 13.1; StataCorp, College Station, TX, USA) was used for statistical analysis.ResultsIn unilateral cataracts in children aged <6 months, 85.42% of surgeons did not prefer to insert an intraocular lens (IOL). In the age group of 6-12 months, almost half of them preferred to insert an IOL. In the age group of 12-24 months and> 24 months, 92.63% and 88.54%, respectively, preferred to insert an IOL. In bilateral cataracts, in children aged <6 months, 91.84% of surgeons did not prefer to insert an IOL, whereas in the age group of 6-12 months, 69.39% did not prefer to insert an IOL. In the age group of 12-24 months and> 24 months, 80.61% and 90.82%, respectively, preferred to insert an IOL. Seventy-four percent of surgeons preferred to use a single-piece hydrophobic acrylic IOL.ConclusionThe management of lens anomalies by pediatric ophthalmologists in India varies with laterality and appears to be comparable to that followed worldwide.

| S-EPMC5621263 | biostudies-literature

A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.

Project description:Ectopia lentis is a genetically heterogeneous condition that is characterized by the subluxation of the lens resulting from the disruption of the zonular fibers. Patients with ectopia lentis commonly present with a marked loss in visual acuity in addition to a number of possibly accompanying ocular complications including cataract, myopia, and retinal detachment. We here describe an isolated form of ectopia lentis in a large inbred family that shows autosomal-recessive inheritance. We map the ectopia lentis locus in this family to the pericentromeric region on chromosome 1 (1p13.2-q21.1). The linkage region contains well more than 60 genes. Mutation screening of four candidate genes revealed a homozygous nonsense mutation in exon 11 of ADAMTSL4 (p.Y595X; c.1785T-->G) in all affected individuals that is absent in 380 control chromosomes. The mutation would result in a truncated protein of half the original length, if the mRNA escapes nonsense-mediated decay. We conclude that mutations in ADAMTSL4 are responsible for autosomal-recessive simple ectopia lentis and that ADAMTS-like4 plays a role in the development and/or integrity of the zonular fibers.

| S-EPMC2668005 | biostudies-literature

Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis.

Project description:Craniosynostosis, the premature fusion of the calvarial bones, has numerous etiologies. Among them, several involve mutations in genes related to the TGFb signaling pathway, a critical molecular mediator of human development. These TGFb pathway-associated craniosynostosis syndromes include Loeys-Dietz syndrome (LDS) and Shprintzen-Goldberg syndrome (SGS). LDS and SGS have many similarities common to fibrillinopathies, specifically Marfan syndrome (MFS), which is caused by mutations in FBN1. Historically discriminating features of MFS from LDS and SGS are (1) the presence of ectopia lentis (the subluxation/dislocation of the ocular lens) and (2) the absence of craniosynostosis. Curiously, several instances of a seemingly novel syndrome involving only craniosynostosis and ectopia lentis have recently been reported to be caused by recessive mutations in ADAMTSL4, a poorly characterized gene as of yet. Here, we report on two new cases of craniosynostosis with ectopia lentis, each harboring recessive mutations in ADAMTSL4. We also discuss a proposed mechanism for the relationship between ADAMTSL4, FBN1, and TGFb pathway-related syndromes.

| S-EPMC8976637 | biostudies-literature

Autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy.

Project description:Polymicrogyria is a type of cortical dysplasia with cortical organizational defect. Bilateral polymicrogyria are distinct with genetic basis in a subset. We hereby report a case of bilateral frontal polymicrogyria (BFP) in association with chorioretinal dystrophy and ectopia lentis (EL) in a 26-year-old lady born of a consanguineous parentage. Her male sibling also had chorioretinal dystrophy and EL. This combination of autosomal recessive inheritance has not been reported earlier in the literature and suggests a role of connective tissue genes in BFP.

| S-EPMC3841628 | biostudies-literature

Characteristics of Corneal Higher-Order Aberrations in Congenital Ectopia Lentis Patients.

Project description:PurposeThe purpose of this study was to investigate the characteristics of corneal higher-order aberrations (HOAs) in patients with congenital ectopia lentis (CEL).MethodsClinical characteristics and HOAs of 60 patients with CEL and 75 healthy controls at Zhongshan Ophthalmic Center in China were retrospectively analyzed. The Q value and the corneal HOAs in the CEL group and the controls were measured by using Pentacam and compared value between the CEL and control groups. The correlation between HOAs and age was investigated using the Pearson correlation analysis.ResultsThe Q value of anterior corneal surface in the CEL group was larger than that in the controls (-0.41 ± 0.17 vs. -0.32 ± 0.13, P = 0.001); the total corneal horizontal coma in the CEL group were larger than that in the controls (0.24 ± 0.18 vs. -0.05 ± 0.14, P < 0.001); both the primary spherical aberrations of the anterior and total corneal surface were lower in the CEL group than that in the controls (for anterior corneal surface: 0.15 ± 0.08 vs. 0.27 ± 0.08 µm, P < 0.001; for total corneal surface: 0.10 ± 0.09 vs. 0.23 ± 0.09 µm, P < 0.001), the anterior and total corneal horizontal coma were negatively associated with age, whereas the anterior and total corneal spherical aberrations were positively associated with age in patients with CEL.ConclusionsPatients with CEL had higher corneal horizontal coma and lower corneal vertical coma primary spherical aberrations than healthy controls.Translational relevanceThese findings are informative for the clinical managements in patients with CEL.

| S-EPMC8383910 | biostudies-literature

What hinders congenital ectopia lentis patients' follow-up visits? A qualitative study.

Project description:OBJECTIVES:The aim of our study is to give insight into congenital ectopia lentis (CEL) patients' care-seeking behaviour and explore the factors affecting their follow-up visits. DESIGN:Cross-sectional study; in-depth and face-to-face semistructured interview. SETTING:A large-scale ophthalmology hospital in China. PARTICIPANTS:35 patients with CEL and their parents from May 2017 to August 2017. MAIN OUTCOME MEASURES:Themes and categories. The interviews were audio-recorded, transcribed verbatim, coded and analysed using grounded theory. Data collection was closed when new themes did not emerge in subsequent dialogues. RESULTS:The factors affecting the timely visits included insufficient awareness of CEL, shame on hereditary disease, lack of effective doctor-patient communication, lack of reliable information online and daily stressors. CONCLUSION:Continuing medical education of severe and rare disease, reforming the pattern of medical education, constructing an interactive platform of the disease on the internet and improving healthcare policy are effective ways to improve the diagnosis and treatment status of CEL in China.

| S-EPMC7069255 | biostudies-literature

Novel p.G1344E mutation in <i>FBN1</i> is associated with ectopia lentis.

Project description:BackgroundEctopia lentis refers to dislocation or subluxation of the crystalline lens. Fibrillin-1, encoded by FBN1, is an important microfibrillar structural component that is specifically required for the suspensory ligament of the lens. FBN1 mutations may cause abnormal structure of microfibrils and has been associated with a broad spectrum of clinical phenotypes. In this study, we characterised a Chinese dominant family with late-onset isolated ectopia lentis caused by a novel missense FBN1 mutation.MethodsEight family members, including four patients with suspected isolated ectopia lentis, were recruited from Shanghai. Clinical data and family history of the proband and other affected family members were collected. Ophthalmic examination, systemic examination and echocardiography were performed. Whole exome sequencing and Sanger sequencing were used to detect potential pathogenic variants.ResultsA novel heterozygous missense mutation c.4031 G>A/p.Gly1344Glu in exon 33 of FBN1 was identified. This mutation was detected in all affected family members and led to specific ocular system phenotypes (ectopia lentis, microspherophakia and secondary glaucoma) with minor skeletal involvement (hallux valgus).ConclusionThe novel c.4031G>A mutation in FBN1 is a likely pathogenic mutation for isolated ectopia lentis. Our study expands the spectrum of FBN1 mutations and contributes to better comprehension of genotype-phenotype correlations of ectopia lentis disease.

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Classifying Ectopia Lentis in Marfan Syndrome into Five Grades of Increasing Severity.

Project description:To describe a five-grade classification of ectopia lentis in Marfan syndrome (MFS) and to evaluate the positive predictive value of the early grades of ectopia lentis. We prospectively included MFS patients and their healthy relatives. The anterior segment examination was classified into grades 0 to 5, and we studied the sensitivity, specificity, and positive predictive value of ectopia lentis in this classification. Seventy-four MFS patients and thirty-six healthy controls were examined. In the MFS group, grades 1, 2, 3, and 4 were present in 15, 24, 17, and 7 patients, respectively, whereas 11 patients in this group did not present ectopia lentis. In the control group, grades 0 and 1 were observed in 30 and 6 individuals, respectively. Sensitivity to ectopia lentis of at least grade 2 was 64.9%, with 100% specificity, whereas sensitivity to ectopia lentis of at least grade 1 was 85.1%, with 83.3% specificity. The positive predictive value of ectopia lentis that was greater than or equal to grade 2 was 100%, whereas that of ectopia lentis greater than or equal to grade 1 was 91.3%. High positive predictive values s were found to be associated with grades 2 and higher of the five-grade classification of ectopia lentis. This classification should help to harmonize clinical practices for this major feature of MFS.

| S-EPMC7141252 | biostudies-literature

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