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Indian Journal of Ophthalmology Jul 2022Microspherophakia is a rare developmental abnormality of the crystalline lens with a myriad of ocular and systemic associations. Glaucoma is a serious complication... (Review)
Review
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.
Topics: Corneal Diseases; Ectopia Lentis; Glaucoma; Humans; Iris; Randomized Controlled Trials as Topic; Retrospective Studies; Visual Acuity
PubMed: 35791105
DOI: 10.4103/ijo.IJO_2888_21 -
Journal of Ophthalmology 2022To evaluate the main factors influencing visual performance after lens subluxation surgery in subjects with isolated MSP.
PURPOSE
To evaluate the main factors influencing visual performance after lens subluxation surgery in subjects with isolated MSP.
DESIGN
Retrospective study.
METHODS
In this study, 38 eyes of subjects with isolated MSP (microspherophakia) were included and divided into two groups based on preoperative IOP (intraocular pressure), IOP <21 mmHg, or IOP ≧21 mmHg. Phacoemulsification and scleral-fixated modified capsular tension ring implantation were performed with or without goniosynechialysis according to the IOP. Some ocular biometric parameters, such as corneal curvature, corneal pachymetry, endothelial cell count (ECC), anterior chamber depth (ACD), and axial length, were evaluated. The best-corrected visual acuity (BCVA) and IOP of these subjects were measured before the surgery and during <1 month and 3- to 6-month postoperative follow-ups.
RESULTS
Compared with the high IOP group, the normal IOP group was significantly younger and had better preoperative BCVA, a higher ECC, deeper ACD, a lower postoperative IOP, and flatter total corneal refractive power K1. The multivariable analysis revealed that preoperative ACD ( = -0.113, = -2.070, =0.047) and preoperative BCVA ( = 0.153, = 2.562, =0.015) were significantly associated with postoperative BCVA at 3-6 months. A preoperative ACD of 1.86 mm was found to be the optimal cut-off point for 3- to 6-month postoperative BCVA of ≧20/63 (≤0.52 logMAR).
CONCLUSIONS
In addition to the effect of normal IOP, better preoperative BCVA and deeper ACD also correlated with better visual outcomes after lens surgery. Preoperative ACD served as a warning for isolated MSP subjects, especially for the risk of irreversible loss of postoperative vision. This trial is registered with "ChiCTR2000039132".
PubMed: 35721227
DOI: 10.1155/2022/9089203 -
Frontiers in Medicine 2022Microspherophakia (MSP) is a rare ocular condition, the lens surgery of which is complicated by both insufficient zonules and undersized capsule.
BACKGROUND
Microspherophakia (MSP) is a rare ocular condition, the lens surgery of which is complicated by both insufficient zonules and undersized capsule.
METHODS
This study included MSP eyes managed with phacoemulsification combined with supra-capsular and scleral-fixated intraocular lens implantation (SCSF-IOL) and made the comparison with those treated by transscleral-fixated modified capsular tension ring and in-the-bag intraocular lens implantation (MCTR-IOL).
RESULTS
A total of 20 MSP patients underwent SCSF-IOL, and 17 patients received MCTR-IOL. The postoperative best corrected visual acuity was significantly improved in both groups ( < 0.001), but no difference was found between the groups ( = 0.326). The IOL tilt was also comparable ( = 0.216). Prophylactic Nd:YAG laser posterior capsulotomy was performed 1 week to 1 month after the SCSF-IOL procedure. In the SCSF-IOL group, two eyes (10.00%) needed repeated laser treatment and one eye (5.00%) had a decentered capsule opening. Posterior capsule opacification was the most common complication (6, 35.29%) in the MCTR group. No IOL dislocation, secondary glaucoma, or retinal detachment was observed during follow-up.
CONCLUSIONS
SCSF-IOL is a viable option for managing MSP and is comparable with the MCTR-IOL. Nd:YAG laser posterior capsulotomy was necessary to prevent residual capsule complications after the SCSF-IOL procedure.
PubMed: 35492301
DOI: 10.3389/fmed.2022.869539 -
Arquivos Brasileiros de Oftalmologia 2023To evaluate the stability and efficacy of the double-flanged 5-0 polypropylene suture to fixate subluxated cataracts at 18 months and the possible complications of this...
PURPOSE
To evaluate the stability and efficacy of the double-flanged 5-0 polypropylene suture to fixate subluxated cataracts at 18 months and the possible complications of this new technique.
METHODS
This technique uses a 5-0 polypropylene monofilament to create two flanges with a thermocautery, for fixation of a capsular tension segment to the sclera to fix the subluxated capsular bag. This technique was implemented in 17 eyes requiring intraocular lens implantation in a setting of zonular dialysis due to trauma, Marfan syndrome, microspherophakia, idiopathic disease, and post-phacoemulsification status.
RESULTS
Follow-up of the patients occurred at 18 months. Best-corrected visual acuity improved significantly from 0.85 to 0.39 (logMAR), whereas the spherical and cylindrical refractive errors and intraocular pressure remained stable from preoperation. No suture photodegradation or pseudophacodonesis were detected.
CONCLUSION
The double-flanged 5-0 polypropylene suture transscleral bag fixation technique has shown favorable long-term outcomes in terms of bag intraocular lens/complex fixation and stability. In eyes with zonular weakness or dialysis, this technique appears to be a safe and knotless option for cataract surgery.
Topics: Humans; Polypropylenes; Lens Capsule, Crystalline; Cataract Extraction; Cataract; Lenses, Intraocular; Sclera; Suture Techniques; Retrospective Studies
PubMed: 35417514
DOI: 10.5935/0004-2749.20230022 -
BMJ Case Reports Mar 2022
Topics: Child; Corneal Diseases; Ectopia Lentis; Eye; Glaucoma; Humans; Iris; Ophthalmologic Surgical Procedures
PubMed: 35351765
DOI: 10.1136/bcr-2022-249209 -
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 -
Frontiers in Medicine 2021To investigate the lens biometric parameters in congenital lens deformities, using a novel technique of swept-source anterior segment optical coherence tomography...
To investigate the lens biometric parameters in congenital lens deformities, using a novel technique of swept-source anterior segment optical coherence tomography (SS-ASOCT). This prospective study included patients with microspherophakia (MSP), coloboma lentis (CL), and posterior lenticonus (PL). For this cohort, 360-degree high-resolution lens images were obtained using the latest SS-ASOCT (CASIA2, Tomey Corp, Nagoya, Japan). The lens biometric parameters were calculated by the CASIA2 built-in software for anterior lens radius (ALR), posterior lens radius (PLR), anteroposterior distance (APD), anterior chamber depth (ACD), equatorial diameter (Eq Dia), rear projection length (RPL), and maximum diameter of the lesion (MDL). This study included two eyes each with MSP and CL and one eye with PL. The lens of MSP was spherical and posteriorly dislocated, with decreased ALR and PLR, Eq Dia, but increased APD. In patients with CL, the coloboma was isolated, bilateral, inferior, and located toward the maldeveloped ciliary body. High astigmatism was mainly lenticular, and this was calculated by the ALR and PLR. Regarding the site of coloboma, a significant decrease in ALR was observed, while the PLR and APD were not affected. The PL eyes had a cone-shaped protrusion of the posterior lens surface with a subtle cataractous region around the apex. An extremely high posterior surface curvature was observed with a mean PLR of 1.67 mm. The RPL and MDL were about 1.80 and 0.4 mm, respectively, which were homogenous at different sections. The CASIA2 is a valuable option for crystalline lens measurement for congenital lens deformities, enabling the accurate diagnosis and providing illuminating insights into the pathogenesis of MSP, CL, and PL.
PubMed: 34988093
DOI: 10.3389/fmed.2021.774640 -
BMC Medical Genomics Sep 2021Microspherophakia (MSP, OMIM 251,750) is a rare inherited autosomal recessive eye disorder characterized by small spherically shaped lens. Several studies have...
BACKGROUND
Microspherophakia (MSP, OMIM 251,750) is a rare inherited autosomal recessive eye disorder characterized by small spherically shaped lens. Several studies have indicated that the transforming growth factor-beta (TGF-beta) binding proteins(LTBP2) gene mutation is the predominant cause of MSP. In our study, novel compound heterozygous mutations in the LTBP2 gene associated with MSP were reported, which was different from previous reported homozygous mutations.
CASE PRESENTATION
The proband was an 18-year-old male in Western China with bilateral MSP, accompanied by ectopia lentis, secondary glaucoma and blindness in both eyes. In our hospital, he received bilateral lens resection and trabeculectomy combined with peripheral iridotomy. Using next-generation sequencing (NGS)-based gene panel tests, we identified pathogenic mutations in the peripheral blood DNA sample from the proband: c.3614_3618dupCTGGC (exon24, NM_000428) and c.2819G > A (exon18, NM_000428). The presence of the novel compound heterozygous mutations in the LTBP2 gene was linked with the development of MSP. Sanger sequencing confirmed the existence of one of the two variants in each parent respectively.
CONCLUSION
Our results demonstrated a rare case of MSP phenotype associated with novel compound heterozygous mutations in the LTBP2 gene using NGS technology.
Topics: Corneal Diseases; Ectopia Lentis; Glaucoma; Iris
PubMed: 34535142
DOI: 10.1186/s12920-021-01080-0 -
The British Journal of Ophthalmology Dec 2022To identify the mutation spectrum and genotype-phenotype correlations of () mutations in a Chinese cohort with congenital ectopia lentis (EL).
AIMS
To identify the mutation spectrum and genotype-phenotype correlations of () mutations in a Chinese cohort with congenital ectopia lentis (EL).
METHODS
Patients clinically suspected of congenital zonulopathy were screened using panel-based next-generation sequencing followed by multiplex ligation-dependent probe amplification. All the probands were subjected to thorough ocular examinations. Molecular and clinical data were integrated in pursuit of genotype-phenotype correlation.
RESULTS
A total of 131 probands of mutations from unrelated families were recruited. Around 65% of the probands were children younger than 9 years old. Overall, 110 distinct mutations were identified, including 39 novel ones. The most at-risk regions were exons 13, 2, 6, 15, 24 and 33 in descending order of mutation frequency. The most prevalent mutation was c.184C>T (seven, 5.34%) in the coding sequence and c.5788+5G>A (three, 2.29%) in introns. Missense mutations were the most frequent type (103, 78.63%); half of which were distributed in the N-terminal regions (53, 51.46%). The majority of missense mutations were detected in one of the calcium-binding epidermal growth factor-like domains (62, 60.19%), and 39 (62.90%) of them were substitutions of conserved cysteine residues. Microspherophakia (MSP) was found in 15 patients (11.45%). Mutations in the middle region (exons 22-42), especially exon 26, had higher risks of combined MSP (OR, 5.51 (95% CI 1.364 to 22.274), p=0.017).
CONCLUSIONS
This study extended the knowledge of the mutation spectrum and provided novel insights into its clinical correlation regarding EL and MSP in the Chinese population.
Topics: Humans; Ectopia Lentis; Fibrillin-1; Fibrillins; Marfan Syndrome; Microfilament Proteins; Phenotype; Mutation; Genotype; China; DNA Mutational Analysis
PubMed: 34281902
DOI: 10.1136/bjophthalmol-2021-319084 -
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