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International Journal of Molecular... May 2023Weill-Marchesani syndrome (WMS) is a rare genetic inherited disorder with autosomal recessive and dominant modes of inheritance. WMS is characterized by the association...
A Novel Mutation in the Associated with Weil-Marchesani Syndrome with a Unique Presentation of Developed Membranes Causing Severe Stenosis of the Supra Pulmonic, Supramitral, and Subaortic Areas in the Heart.
Weill-Marchesani syndrome (WMS) is a rare genetic inherited disorder with autosomal recessive and dominant modes of inheritance. WMS is characterized by the association of short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia and ectopia of the lenses, and, occasionally, heart defects. We investigated the genetic cause of a unique and novel presentation of heart-developed membranes in the supra-pulmonic, supramitral, and subaortic areas, creating stenosis that recurred after their surgical resection in four patients from one extended consanguineous family. The patients also presented ocular findings consistent with Weill-Marchesani syndrome (WMS). We used whole exome sequencing (WES) to identify the causative mutation and report it as a homozygous nucleotide change c. 232T>C causing p. Tyr78His in . (ADAM Metallopeptidase with Thrombospondin Type 1 Motif 10) is a member of a family of zinc-dependent extracellular matrix protease family. This is the first report of a mutation in the pro-domain of . The novel variation replaces a highly evolutionary conserved tyrosine with histidine. This change may affect the secretion or function of ADAMTS10 in the extracellular matrix. The compromise in protease activity may thus cause the unique presentation of the developed membranes in the heart and their recurrence after surgery.
PubMed: 37240210
DOI: 10.3390/ijms24108864 -
International Journal of Ophthalmology 2023To explore the phenotype and genotype of Weill-Marchesani syndrome (WMS) in a Chinese family and review related literature.
AIM
To explore the phenotype and genotype of Weill-Marchesani syndrome (WMS) in a Chinese family and review related literature.
METHODS
Three WMS patients and other unaffected individuals in this family with a history of consanguineous marriage were included in this study. Medical history, comprehensive ophthalmic examinations, and systemic evaluation, as well as whole exome and Sanger sequencing of specific genomic regions, were performed.
RESULTS
The three affected siblings presented with short stature, brachydactyly and ocular disorders, including very shallow anterior chamber, high myopia, microspherophakia lens subluxation with stretched zonules and glaucoma. Genetic analysis verified a homozygous missense mutation (c.2983C>T: p. Arg995Trp) in , which was correlated with the diseases in this family, indicating an autosomal recessive inherited manner of WMS. This review aims to summarize the mutation sites of WMS genes, so as to prevent the disease and better guide clinical diagnosis and treatment.
CONCLUSION
A novel homozygous missense variant of is identified in a WMS family with a history of consanguineous marriage. Our study expands the range of mutations associated with WMS and deepens our understanding of pathology in disease associated with variants.
PubMed: 37206179
DOI: 10.18240/ijo.2023.05.04 -
Journal of Family Medicine and Primary... Dec 2022Microspherophakia refers to a spherophakic lens with a decreased equatorial diameter. Microspherophakia can be found in systemic or ocular conditions, such as Marfan's...
Microspherophakia refers to a spherophakic lens with a decreased equatorial diameter. Microspherophakia can be found in systemic or ocular conditions, such as Marfan's syndrome, Weill-Marchesani syndrome, iridocorneal endothelial syndrome, and Axenfeld-Rieger syndrome. A 3-year-old girl was brought with complaints of eyes appearing larger, watering and inability to see bright light for 1 year. On examination, she had megalocornea; the cornea was clear with a shallow anterior chamber, and microspherophakic lens. Her intraocular pressure (IOP) was recorded as 43 and 32 mmHg in the right and left eyes, respectively. This article guides in classifying, categorizing, and managing a case with microspherophakia.
PubMed: 36994055
DOI: 10.4103/jfmpc.jfmpc_1212_22 -
Frontiers in Medicine 2022Weill-Marchesani syndrome 4 (WMS4) is caused by gene variant and clinical abnormalities including lenticular myopia, ectopia lentis, glaucoma, microspherophakia,...
BACKGROUND
Weill-Marchesani syndrome 4 (WMS4) is caused by gene variant and clinical abnormalities including lenticular myopia, ectopia lentis, glaucoma, microspherophakia, brachydactyly, and short stature. Due to free of heart defects and joint stiffness compared with other WMS forms, WMS4 has an insidious onset and is often misdiagnosed as high myopia. We combined multiple imaging biometry and whole-exome sequencing to diagnose a case of WMS4 with a 3-year follow-up.
CASE PRESENTATION
An 8-year-old boy presented to our ophthalmology department with progressive myopia for 1 year. He had high myopia in both eyes with normal funds, intraocular pressure, and axial length. Ocular examination revealed thicker lenses (right 4.38 mm, left 4.31 mm) with a smaller equatorial diameter (right 7.33 mm and left 7.17 mm) compared to normal children of the same age. Finger length measurement indicates brachydactyly. Whole-exome sequencing identified compound heterozygous missense variants c.2984G > A (p.Arg995Gln) and c.2254A > G (p.Ile752Val) in the gene. During the 3 years of follow-up, the thickness of lenses increased significantly (right 4.49 mm, left 4.48 mm), but the equatorial diameter of the lenses had no significant change (right 7.32 mm, left 7.21 mm). As the equivalent lens power increased, the patient's myopia spherical refractive error rose accordingly. Although the anterior chamber angle remained open during follow-up, the intraocular pressure increased to right 20.4 mmHg and left 19.6 mmHg, Iridodonesis and short stature were present.
CONCLUSION
This case report highlights the abnormal thickening of the lens in WMS4 compared to the physiological thinning process during childhood. Comprehensive clinical examinations and genetic testing may improve diagnosis, which allows early therapeutic interventions for complications and better visual outcomes for the patient.
PubMed: 36698805
DOI: 10.3389/fmed.2022.1021489 -
International Journal of Ophthalmology 2022To evaluate the safety and efficacy of scleral-fixated 3-looped haptics intraocular lens (IOL) implantation for surgical management of microspherophakia.
AIM
To evaluate the safety and efficacy of scleral-fixated 3-looped haptics intraocular lens (IOL) implantation for surgical management of microspherophakia.
METHODS
A retrospective case series include 10 microspherophakic patients (15 eyes) who underwent lens removal plus a modified surgical treatment of scleral-fixated 3-looped haptics IOL implantation. The primary outcomes involved visual acuity, intraocular pressure (IOP). Secondary outcomes were spherical equivalent (SE), anterior chamber depth (ACD), corneal endothelial cell density and postoperative complications.
RESULTS
After a postoperative follow-up of 17.60±15.44mo, improved visual outcomes can be observed. The uncorrected distance visual acuity (UCVA) logMAR improved from 1.54±0.59 preoperatively to 0.51±0.35 postoperatively (=0.001), and best corrected visual acuity (BCVA) logMAR improved from 0.97±0.91 preoperatively to 0.24±0.23 postoperatively (=0.003). Moreover, the SE decreased from -9.58±7.47D preoperatively to -0.65±2.21 D postoperatively (<0.001). In terms of safety profile, the average IOP decreased from 21.10±12.94 mm Hg preoperatively to 14.03±3.57 mm Hg postoperatively (=0.044), and the previously elevated IOP of three eyes decreased to the normal range. The ACD increased from 2.25±1.45 mm preoperatively to 3.35±0.39 mm postoperatively (=0.017). The density of corneal endothelial cells did not change significantly after surgery (=0.140). The posterior chamber IOLs were well centered and no severe complications were found.
CONCLUSION
Lens removal plus the modified surgical treatment of scleral-fixated 3-looped haptics IOL implantation can help in improvement of visual acuity, which can be regarded as a relative safe method for the surgical management of microspherophakia.
PubMed: 36536984
DOI: 10.18240/ijo.2022.12.08 -
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 -
American Journal of Ophthalmology Case... Dec 2022To report a case of congenital ciliary body cysts causing microspherophakia, ectopia lentis, and secondary angle closure glaucoma in an infant.
PURPOSE
To report a case of congenital ciliary body cysts causing microspherophakia, ectopia lentis, and secondary angle closure glaucoma in an infant.
OBSERVATIONS
A 16-month-old male was found to have bilateral ciliary body cysts associated with zonular laxity or absence causing microspherophakia and ectopia lentis as demonstrated on multimodal imaging. Additionally, the patient had secondary angle closure glaucoma which was likely multi-factorial related to both lens abnormalities and anterior displacement of the iris from the cysts themselves. The patient underwent lensectomy and cyst removal which resulted in intraocular pressure stabilization and visual rehabilitation.
CONCLUSIONS AND IMPORTANCE
Congenital ciliary body cysts are a rare cause of lens abnormalities and secondary angle closure glaucoma in children. Information regarding genetic underpinnings or systemic associations is limited.
PubMed: 36275188
DOI: 10.1016/j.ajoc.2022.101723 -
Frontiers in Genetics 2022Geleophysic dysplasia and Weill-Marchesani syndrome from the acromelic dysplasias group of genetic skeletal disorders share remarkable clinical and genetic overlap....
Geleophysic dysplasia and Weill-Marchesani syndrome from the acromelic dysplasias group of genetic skeletal disorders share remarkable clinical and genetic overlap. Ophthalmological, physical, radiological examinations were conducted with a female patient in her early 30 s. Whole exome sequencing followed by Sanger sequencing validation was performed to identify the genetic cause. The patient, born to consanguineous Chinese parents, presented with microspherophakia, lens subluxation, high myopia, short statue, small hands and feet, stiff joints, and thickened skin. A diagnosis of Weill-Marchesani syndrome was initially made for her. However, genetic testing reveals that the patient is homozygous for the c.1966G>A (p.Gly656Ser) variant in , and that the patient's healthy mother and daughter are heterozygous for the variant. As mutations in are known to cause autosomal recessive geleophysic dysplasia, the patient is re-diagnosed with geleophysic dysplasia in terms of her genotype and phenotype. The present study describes the clinical phenotype of the homozygous p. Gly656Ser variant, which increases our understanding of the genotype-phenotype correlation in acromelic dysplasias.
PubMed: 36246610
DOI: 10.3389/fgene.2022.1014188 -
Saudi Journal of Ophthalmology :... 2022To report the surgical outcome of early lens aspiration, posterior chamber intraocular lens (PC IOL), and capsular tension ring (CTR) in a case series of...
PURPOSE
To report the surgical outcome of early lens aspiration, posterior chamber intraocular lens (PC IOL), and capsular tension ring (CTR) in a case series of microspherophakia (MSP) and secondary glaucoma.
METHODS
Case series of 18 eyes of MSP cases presented with lenticular myopia and secondary glaucoma that underwent early lens aspiration, PC IOL and CTR by one ophthalmologist. Baseline, long-term postoperative outcomes and complications were documented.
RESULTS
All cases underwent successful surgery with lens aspiration PC IOL implantation and CTR insertion without intraoperative complications. One of the 18 cases was a delayed referral which had broad anterior synechiae and following lens aspiration developed corneal decompensation. In one eye, CTR implantation was not possible hence, lens aspiration with scleral fixation (SF) of 3 piece IOL was performed (excluded from the analysis). Overall there was an improvement in visual acuity (from 0.3 ± 0.1 to 0.2 ± 0.2 LogMar, = 0.006), intraocular pressure (IOP), and most notably, deepening of the anterior chamber. Some cases required subsequent glaucoma surgery to control IOP. After a long duration of follow-up, all cases had stable capsular lens complex and no capsular phimosis.
CONCLUSION
Early Lens aspiration with CTR and PCIOL alone in MSP with lens subluxation has a significant impact on the patient's quality of vision, deepening the anterior chamber and preventing complications or poor outcomes. In addition, good capsular-lens complex stability and absence of capsular phimosis or phacodonesis on long-term follow-up were obtained.
PubMed: 36211322
DOI: 10.4103/sjopt.sjopt_231_21 -
Indian Journal of Ophthalmology Oct 2022We herein describe the kissing MVR technique in cases of microspherophakia for safe and effective endocapsular lens aspiration. Microspherophakia is associated with...
We herein describe the kissing MVR technique in cases of microspherophakia for safe and effective endocapsular lens aspiration. Microspherophakia is associated with abnormally lax and broken zonules, which pose a great challenge to the operating surgeon, especially while creating the openings in the capsular bag. In this novel technique, simultaneous use of two 23 G MVR blades reduces the above problem associated with the severely mobile lens. Here, one MVR blade stabilizes the capsular bag and, at the same time, provides counter-traction for the opposite MVR blade while puncturing the capsular bag. Furthermore, the creation of openings in the lens at the equator or just posterior to it is beneficial as the capsule is relatively thicker and stronger at this location. This also minimizes the risk of premature extension to the anterior or posterior capsule, thereby avoiding complications like dropped lens matter, vitreous prolapse, and vitreous traction.
Topics: Corneal Diseases; Ectopia Lentis; Glaucoma; Humans; Iris; Lens Capsule, Crystalline; Lenses, Intraocular
PubMed: 36190071
DOI: 10.4103/ijo.IJO_588_22