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European Journal of Ophthalmology Sep 2022To report the initial clinical outcomes of combining glaucoma surgery with flanged intrascleral intraocular lens (F-SFIOL) fixation as a single stage procedure.
PURPOSE
To report the initial clinical outcomes of combining glaucoma surgery with flanged intrascleral intraocular lens (F-SFIOL) fixation as a single stage procedure.
METHODS
Retrospective, non-comparative case-series of eyes which underwent combined surgery for glaucoma with F-SFIOL and had at least 6-months of follow-up. A fellowship-trained senior glaucoma surgeon managed all the cases.
RESULTS
Twelve-eyes of 10 glaucoma patients (8 males, 2 females) underwent F-SFIOL; only 8 of these eyes were combined with a glaucoma procedure. Mean age of patients was 55.1 ± 16.1 years (95%CI [44.4,73.2], median 61 years) and were followed-up for a mean of 21.0 ± 9.5 months, 95% CI [13.1,28.9], median 18 months. F-SFIOL was combined with trabeculectomy ± Mitomycin C in 4 eyes, Ahmed Glaucoma Valve in 3 eyes and needling of a pre-existing bleb in 1. Each eye had controlled intraocular pressure (IOP) at last follow-up (pre-procedure 29.1 ± 13.4 mmHg, 95% CI [17.9, 40.3], median 27 mmHg to 14.5 ± 3.2 mmHg, 95% CI [11.8, 17.1], median 13 mmHg, p = 0.006) and decreased need for number of anti-glaucoma medication (AGM) (pre-procedure 3.7 ± 1.1, 95% CI [2.8,4.6], median 4 to 0.7 ± 0.7, 95% CI [0.1,1.3] median 1, p < 0.001). In all the eyes, best corrected visual acuity (BCVA) was either stable or improved; only 1 eye had astigmatism worse than that pre-existing. In 1 eye IOL was explanted, with an additional procedure to control IOP. No serious long-term complications occurred in any subject.
CONCLUSION
The initial experience of single-stage F-SFIOL along with glaucoma surgery, both being performed by the same anterior-segment surgeon, is promising, thereby avoiding the cost, specialised skill, and potential complications of a posterior approach. Glaucoma surgery combined with and adapted to suture-less, flap-less, glue-less intra-scleral IOL fixation is hitherto unreported.
Topics: Adult; Aged; Female; Glaucoma; Humans; Intraocular Pressure; Lenses, Intraocular; Male; Middle Aged; Retrospective Studies; Trabeculectomy; Visual Acuity
PubMed: 34894793
DOI: 10.1177/11206721211066390 -
The American Journal of Case Reports May 2021BACKGROUND Short stature is the second most common reason for referral to a pediatric endocrinology clinic. Numerous genetic causes have been identified.... (Review)
Review
BACKGROUND Short stature is the second most common reason for referral to a pediatric endocrinology clinic. Numerous genetic causes have been identified. Weill-Marchesani syndrome (WMS) is one of the rare genetic disorders that cause short stature. It is caused by homozygous mutations in the FBN1 gene, ADAMTS10 gene, ADAMTS17 gene, or LTBP2 gene. Despite genetic heterogeneity, WMS is clinically homogeneous. It is characterized by short stature, brachydactyly, joint stiffness, ocular abnormalities, mainly microspherophakia and glaucoma, and occasionally cardiac defects. CASE REPORT A 9-year-old boy had bilateral narrow-angle glaucoma with lens subluxation, elevated intraocular pressure, and severe myopia since early childhood. He had phenotypic dysmorphic features and radiological findings consistent with WMS. He underwent lensectomy and scleral-fixated intraocular lens implantation as well as drug treatment to control the intraocular pressure. He was a slow grower, and his growth parameters showed disproportionate short stature with brachydactyly and joint stiffness. Growth hormone provocation tests were subnormal with a peak value of 7.89 ng/mL. CONCLUSIONS The constellation of clinical presentation, radiological findings, and the molecular examination confirmed a homozygous familial variant of the ADAMTS10 gene identified by carrier gene testing. This known familial variant creates a premature termination codon classified as a likely pathogenic cause of WMS. In this syndrome, glaucoma treatment is considered the greatest challenge. The disease-causing mechanism in WMS is not known but thought to be due to abnormal actin distribution and organization in fibroblasts as a result of impaired connections between extracellular matrix components and the cytoskeleton.
Topics: ADAMTS Proteins; Child; Child, Preschool; Dwarfism; Ectopia Lentis; Glaucoma; Homozygote; Humans; Latent TGF-beta Binding Proteins; Male; Weill-Marchesani Syndrome
PubMed: 34057920
DOI: 10.12659/AJCR.930824 -
Eye (London, England) Sep 2019To assess the outcomes of intra-lenticular lens aspiration (ILLA) in paediatric cases with anterior dislocation of lens.
PURPOSE
To assess the outcomes of intra-lenticular lens aspiration (ILLA) in paediatric cases with anterior dislocation of lens.
METHODS
A retrospective review of medical records of cases with anterior dislocation of the lens in children (age < 16 years) that underwent ILLA between June 2017 and May 2018 was performed. Corrected distance visual acuity (CDVA), intraocular pressure (IOP), and anterior segment findings were noted at presentation and follow-up. Surgical notes were reviewed for all cases. Post-operative central corneal thickness (CCT) and central macular thickness (CMT) were recorded.
RESULTS
Eleven eyes of eight patients with a median age of ten years underwent ILLA. There were four males and four females. The median duration of symptoms was 2 months, CDVA was 1.77 logMAR, and IOP was 16 mm of Hg. Ten eyes had corneo-lenticular touch with corneal oedema, and two had raised IOP at presentation. Homocystinuria (n = 2/8), Microspherophakia (n = 2/8), Marfan syndrome (n = 1/8), Buphthalmos (n = 1/8) and Ectopia lentis et pupillae (n = 1/8) were the identifiable causes for anterior dislocation. There were no intra-operative complications in any case. Immediate post-operative corneal oedema and raised IOP was observed in nine and three cases respectively and was treated with medical therapy. The median post-operative CDVA and IOP at 6-months was 1 logMAR and 15 mm of Hg respectively. The median CCT and CMT were 516 and 248 μm respectively. Five eyes developed a central corneal descemet scar.
CONCLUSIONS
ILLA is a safe and effective technique for surgical removal of an anteriorly dislocated lens in paediatric cases.
Topics: Adolescent; Anterior Eye Segment; Capsulorhexis; Child; Child, Preschool; Chondroitin Sulfates; Drug Combinations; Eyeglasses; Female; Humans; Hyaluronic Acid; Infant; Intraocular Pressure; Lens Subluxation; Male; Retrospective Studies; Suction; Tonometry, Ocular; Visual Acuity
PubMed: 30944461
DOI: 10.1038/s41433-019-0426-y -
JPMA. the Journal of the Pakistan... Mar 2020Latent transforming growth factor beta binding protein 2 (LTBP2) plays a critical role in the development of connective tissue structure and function. Mutations in gene...
Latent transforming growth factor beta binding protein 2 (LTBP2) plays a critical role in the development of connective tissue structure and function. Mutations in gene encoding LTBP2 are known to cause syndromic and a non-syndromic microspherophakia. Here, we present a 'first' report of genetic linkage of microspherophakia (MSP) to LTBP2 locus in a large consanguineous Pakistani family with four affected individuals in three loops. Using polymorphic microsatellite markers, haplotypes and linkage analysis, the diseased phenotype in MSP001 family was mapped to the LTBP2 gene. A maximum two point Logarithm of the odds (LOD) score of 4.16 was obtained with marker D14S284 at θ =0. Mutational analysis of exon 36 of LTBP2 using Sanger's sequencing did not reveal any previously reported mutations. Further analysis of the remaining exons are required to identify the causative variant.
Topics: Adolescent; Chromosome Mapping; Chromosomes, Human, Pair 14; Consanguinity; Corneal Diseases; Ectopia Lentis; Female; Glaucoma; Humans; Iris; Latent TGF-beta Binding Proteins; Lens Subluxation; Male; Medical History Taking; Mutation; Myopia; Pakistan; Pedigree; Young Adult
PubMed: 32207437
DOI: 10.5455/JPMA.302440 -
Human Molecular Genetics Apr 2021Isolated Microspherophakia (MSP) is an autosomal recessive disorder characterized by a smaller than normal spherical lens. Till date, LTBP2 is the only gene shown to...
Isolated Microspherophakia (MSP) is an autosomal recessive disorder characterized by a smaller than normal spherical lens. Till date, LTBP2 is the only gene shown to cause MSP. We used homozygosity mapping and whole-exome sequencing and identified a homozygous mutation, c.1148C > T (p.Pro383Leu), in the WDR8 (or WRAP73) gene in two Indian MSP families. In vitro experiments showed that the missense mutation renders the protein unstable. WDR8 is a centriolar protein that has important roles in centrosomal assembly, spindle pole formation and ciliogenesis. Co-immunoprecipitation experiments from HeLa cells indicated that the mutation interferes with the interaction of WDR8 with its binding partners. In zebrafish, both morpholino-mediated knockdown and CRISPR/Cas knockout of wdr8 resulted in decreased eye and lens size. The lack of wdr8 affected cell cycle progression in the retinal cells, causing a reduction in cell numbers in the retina and lens. The reduction in eye size and the cell cycle defects were rescued by exogenous expression of the human wild-type WDR8. However, the human mutant WDR8 (p.Pro383Leu) was unable to rescue the eye defects, indicating that the missense mutation abrogates WDR8 protein function. Thus, our zebrafish results suggested that WDR8 is the causative gene for MSP in these Indian families.
Topics: Adult; Animals; Child; Corneal Diseases; Ectopia Lentis; Exome; Female; Glaucoma; HeLa Cells; Humans; India; Iris; Male; Mutation; Pedigree; Proteins; Exome Sequencing; Young Adult; Zebrafish
PubMed: 33693649
DOI: 10.1093/hmg/ddab061 -
Journal of Cataract and Refractive... Mar 2020A new technique for fixating the capsular bag in patients with ectopia lentis is presented. In this technique, the capsulorhexis is performed using a femtosecond laser,...
A new technique for fixating the capsular bag in patients with ectopia lentis is presented. In this technique, the capsulorhexis is performed using a femtosecond laser, followed by the insertion of a standard capsular tension ring to redistribute capsular forces. The nucleus is hydroprolapsed into the anterior chamber and nuclear disassembly is performed above the iris plane to reduce zonular stress. Finally, a 5-0 polypropylene monofilament is used to fixate a capsular tension segment and subluxated capsular bag. This novel double-flanged method, achieved with cautery, does not require direct suturing of the monofilament on the sclera. This article describes the use of this new technique in 3 eyes, 2 in patients with Marfan syndrome and 1 in a patient with microspherophakia.
Topics: Adult; Capsulorhexis; Corneal Diseases; Ectopia Lentis; Female; Glaucoma; Humans; Iris; Laser Therapy; Lens Capsule, Crystalline; Lens Implantation, Intraocular; Marfan Syndrome; Middle Aged; Phacoemulsification; Refraction, Ocular; Sclera; Suture Techniques; Visual Acuity
PubMed: 32079842
DOI: 10.1097/j.jcrs.0000000000000116 -
Gene Oct 2024Traboulsi syndrome is an under-recognized syndromic form of ectopia lentis (EL) caused by the aspartate beta-Hydroxylase (ASPH) variant. The genotype-phenotype profile...
BACKGROUND
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.
METHODS
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.
RESULTS
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.
CONCLUSIONS
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.
Topics: Humans; Ectopia Lentis; Male; Child, Preschool; Genetic Association Studies; Pedigree; Mutation, Missense; Cohort Studies; Asian People; Phenotype; Female; High-Throughput Nucleotide Sequencing; China; Codon, Nonsense; Genotype; East Asian People; Calcium-Binding Proteins; Mixed Function Oxygenases; Membrane Proteins; Muscle Proteins
PubMed: 38788814
DOI: 10.1016/j.gene.2024.148600 -
American Journal of Ophthalmology Case... Jun 2022The purpose of this case report is to describe the utility of portable femtosecond laser platform in a child with bilateral isolated microspherophakia and ectopia lentis...
PURPOSE
The purpose of this case report is to describe the utility of portable femtosecond laser platform in a child with bilateral isolated microspherophakia and ectopia lentis performed under general anesthesia.
OBSERVATION
An appropriately sized and well centered capsulotomy with well centered PCIOL could be achieved in both eyes of the patient.
CONCLUSION & IMPORTANCE
The advent of mobile femtosecond laser assisted cataract surgery might prove a useful and convenient platform for surgeries in pediatric patients with subluxated cataracts even under general anesthesia. It may circumvent the need for an additional laser suite and reduce surgical time by eliminating the need for patient movement.
PubMed: 35313468
DOI: 10.1016/j.ajoc.2022.101442 -
Eye (London, England) Mar 2020
Topics: Corneal Diseases; Ectopia Lentis; Glaucoma; Humans; Iris
PubMed: 31391543
DOI: 10.1038/s41433-019-0544-6 -
American Journal of Ophthalmology Case... Dec 2022The purpose of this report is to describe a case of a patient with microspherophakia (MSP) who had a scleral rupture during a retinal detachment (RD) repair with primary...
PURPOSE
The purpose of this report is to describe a case of a patient with microspherophakia (MSP) who had a scleral rupture during a retinal detachment (RD) repair with primary scleral buckle and cryoretinopexy.
OBSERVATIONS
A 48-year-old woman with MSP presented with six days of expanding loss of vision and photopsias. Examination revealed a superior retinal detachment involving the macula associated with two superior retinal tears. The patient underwent successful placement of a segmental buckle. During cryoretinopexy treatment of the tears, a 4 mm full-thickness scleral rupture occurred. The sclera was immediately closed with interrupted 8-0 nylon sutures and reinforced with a processed pericardium allograft. Subsequent combined phacoemulsification with capsulectomy, zonulectomy, and pars plana vitrectomy with retinal reattachment was performed nine days post buckle placement.
CONCLUSIONS AND IMPORTANCE
This case illustrates that a patient with MSP, even observed in the absence of a genetic syndrome or familial condition, may be at increased risk of scleral rupture during RD repair. Though future investigations are necessary to confirm this association, surgeons should take a conservative approach by having a high clinical suspicion for compromised scleral integrity in patients with MSP and proceeding with caution in procedures that may pose a risk of scleral rupture. A pericardium allograft can be an effective adjunct for scleral rupture repair.
PubMed: 36393910
DOI: 10.1016/j.ajoc.2022.101746