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Soon Cheol Cha - One of the best experts on this subject based on the ideXlab platform.
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Acute angle-closure glaucoma in a highly myopic patient secondary to Weill–Marchesani syndrome: histopathologic lens features
International Ophthalmology, 2016Co-Authors: Su-ho Lim, Jun Hyuk Son, Soon Cheol ChaAbstract:The authors describe a case of acute angle-closure glaucoma in a highly myopic patient secondary to Weill–Marchesani syndrome (WMS) and histopathologic features of his lens. A 37-year-old male patient visited our clinic for ocular pain with elevated intraocular pressure (19/57 mmHg). The slit-lamp examination showed an inferiorly subluxated lens in the right eye, and anterior dislocated Microspherophakia with corneolenticular contact in the left eye. The physical examination showed brachydactyly and relatively short stature. To control the IOP and to improve visual acuity, lens extraction, anterior vitrectomy, and scleral-sutured IOL implantation surgery were performed. To the best of our knowledge, this is the first histopathologic report of bilateral lens in a Korean patient with WMS. The pathologic specimens showed epithelial cell changes, hyaloid degeneration, and subcapsular cortical fiber changes. The authors attributed these changes to physical and mechanical factors because the lens is highly mobile and often comes in contact with the iris.
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Acute angle-closure glaucoma in a highly myopic patient secondary to Weill-Marchesani syndrome: histopathologic lens features.
International ophthalmology, 2016Co-Authors: Su-ho Lim, Jun Hyuk Son, Soon Cheol ChaAbstract:The authors describe a case of acute angle-closure glaucoma in a highly myopic patient secondary to Weill-Marchesani syndrome (WMS) and histopathologic features of his lens. A 37-year-old male patient visited our clinic for ocular pain with elevated intraocular pressure (19/57 mmHg). The slit-lamp examination showed an inferiorly subluxated lens in the right eye, and anterior dislocated Microspherophakia with corneolenticular contact in the left eye. The physical examination showed brachydactyly and relatively short stature. To control the IOP and to improve visual acuity, lens extraction, anterior vitrectomy, and scleral-sutured IOL implantation surgery were performed. To the best of our knowledge, this is the first histopathologic report of bilateral lens in a Korean patient with WMS. The pathologic specimens showed epithelial cell changes, hyaloid degeneration, and subcapsular cortical fiber changes. The authors attributed these changes to physical and mechanical factors because the lens is highly mobile and often comes in contact with the iris.
Su-ho Lim - One of the best experts on this subject based on the ideXlab platform.
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Acute angle-closure glaucoma in a highly myopic patient secondary to Weill–Marchesani syndrome: histopathologic lens features
International Ophthalmology, 2016Co-Authors: Su-ho Lim, Jun Hyuk Son, Soon Cheol ChaAbstract:The authors describe a case of acute angle-closure glaucoma in a highly myopic patient secondary to Weill–Marchesani syndrome (WMS) and histopathologic features of his lens. A 37-year-old male patient visited our clinic for ocular pain with elevated intraocular pressure (19/57 mmHg). The slit-lamp examination showed an inferiorly subluxated lens in the right eye, and anterior dislocated Microspherophakia with corneolenticular contact in the left eye. The physical examination showed brachydactyly and relatively short stature. To control the IOP and to improve visual acuity, lens extraction, anterior vitrectomy, and scleral-sutured IOL implantation surgery were performed. To the best of our knowledge, this is the first histopathologic report of bilateral lens in a Korean patient with WMS. The pathologic specimens showed epithelial cell changes, hyaloid degeneration, and subcapsular cortical fiber changes. The authors attributed these changes to physical and mechanical factors because the lens is highly mobile and often comes in contact with the iris.
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Acute angle-closure glaucoma in a highly myopic patient secondary to Weill-Marchesani syndrome: histopathologic lens features.
International ophthalmology, 2016Co-Authors: Su-ho Lim, Jun Hyuk Son, Soon Cheol ChaAbstract:The authors describe a case of acute angle-closure glaucoma in a highly myopic patient secondary to Weill-Marchesani syndrome (WMS) and histopathologic features of his lens. A 37-year-old male patient visited our clinic for ocular pain with elevated intraocular pressure (19/57 mmHg). The slit-lamp examination showed an inferiorly subluxated lens in the right eye, and anterior dislocated Microspherophakia with corneolenticular contact in the left eye. The physical examination showed brachydactyly and relatively short stature. To control the IOP and to improve visual acuity, lens extraction, anterior vitrectomy, and scleral-sutured IOL implantation surgery were performed. To the best of our knowledge, this is the first histopathologic report of bilateral lens in a Korean patient with WMS. The pathologic specimens showed epithelial cell changes, hyaloid degeneration, and subcapsular cortical fiber changes. The authors attributed these changes to physical and mechanical factors because the lens is highly mobile and often comes in contact with the iris.
André Mégarbané - One of the best experts on this subject based on the ideXlab platform.
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Exclusion of chromosome 15q21.1 in autosomal‐recessive Weill–Marchesani syndrome in an inbred Lebanese family
Clinical genetics, 2008Co-Authors: André Mégarbané, Mirna Mustapha, J Bleik, N. Waked, Valérie Delague, Jacques LoiseletAbstract:We report an inbred family where 3 siblings had short stature, brachydactyly, limitation of joint movements, Microspherophakia, luxated lenses, glaucoma, and heart malformations. Parents of the affected siblings were relatively short, but did not have any of the other features present in their siblings. Those clinical features are consistent with the Weill Marchesani syndrome (MIM 277600). Both autosomal-recessive and autosomal-dominant pedigrees have been reported, with a possible linkage to chromosome 15q21.1 in the latter. Linkage analysis at 15q21.1 in this Lebanese family allowed us to exclude the role of this region in the etiology of the syndrome. Speculations regarding the pathogenesis of the disorder are discussed.
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ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.
American journal of human genetics, 2004Co-Authors: Nathalie Dagoneau, Laurence Faivre, Hélène Dollfus, Yves Alembik, André Mégarbané, Abdulrahman Alswaid, Arnold Munnich, Catherine Benoist-lasselin, Céline Huber, Laurence Legeai-malletAbstract:Weill-Marchesani syndrome (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 have recently mapped a gene for the autosomal recessive form of WMS to chromosome 19p13.3-p13.2, in a 12.4-cM interval. Here, we report null mutations in a member of the extracellular matrix protease family, the gene encoding ADAMTS10, a disintegrin and metalloprotease with thrombospondin motifs. A total of three distinct mutations were identified in two consanguineous families and in one sporadic WMS case, including one nonsense mutation (R237X) and two splice mutations (1190+1G→A and 810+1G→A). ADAMTS10 expression studies using reverse-transcriptase polymerase chain reaction, northern blot, and dot-blot analyses showed that ADAMTS10 is expressed in skin, fetal chondrocytes, and fetal and adult heart. Moreover, electron microscopy and immunological studies of the skin fibroblasts from the patients confirmed impairment of the extracellular matrix. We conclude, therefore, that ADAMTS10 plays a major role in growth and in skin, lens, and heart development in humans.
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Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.
American journal of medical genetics. Part A, 2003Co-Authors: Laurence Faivre, Hélène Dollfus, Stanislas Lyonnet, Yves Alembik, André Mégarbané, John Samples, Robert J Gorlin, Abdulrahman Alswaid, Josué Feingold, Martine Le MerrerAbstract:Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including Microspherophakia, ectopia of lens, severe myopia, and glaucoma. Both autosomal recessive (AR) and autosomal dominant (AD) modes of inheritance have been described for WMS. A locus for AR WMS has recently been mapped to chromosome 19p13.3-p13.2 while mutation within the fibrillin-1 gene (15q21.1) was found in one AD WMS family. In order to answer the question of whether or not genetic heterogeneity could be related to a clinical heterogeneity, we reviewed 128 WMS patients from the literature (including 57 AR, 50 AD, and 21 sporadic cases), with a particular attention to clinical features. Statistical analyses using Fischer exact test were used to compare the proportions of 12 clinical parameters between AR and AD patients. There was no significant difference between both groups for myopia, glaucoma, cataract, short stature, brachydactyly, thick skin, muscular build, and mental retardation. Significant results were found for Microspherophakia (94% in AR, 74% in AD, Fischer 0.007), ectopia lentis (64% in AR, 84% in AD, Fischer 0.016), joint limitations (49% in AR, 77% in AD, Fischer 0.010), and cardiac anomalies (39% in AR, 13% in AD, Fischer 0.004). Nevertheless, we failed to distinguish AR from AD inheritance in individual cases. These results support the clinical homogeneity but the genetic heterogeneity of WMS.
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Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2
Human Genetics, 2002Co-Authors: Laurence Faivre, André Mégarbané, Abdulrahman Alswaid, Louise Zylberberg, Noura Aldohayan, Ana Campos-xavier, Delphine Bacq, Laurence Legeai-mallet, Jacky Bonaventure, Arnold MunnichAbstract:Weill-Marchesani syndrome (WMS) is a rare disease characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities, including Microspherophakia, ectopia lentis, and glaucoma. Both autosomal recessive and autosomal dominant modes of inheritance have been described in association with WMS. We have performed a genome-wide search in two large consanguineous families of Lebanese and Saudian origin consistent with an autosomal recessive mode of inheritance. Here, we report the linkage of the disease gene to chromosome 19p13.3-p13.2 (Zmax=5.99 at θ=0 at locus D19S906). A recombination event between loci D19S905 and D19S901 defines the distal boundary, and a second recombination event between loci D19S221 and D19S840 defines the proximal boundary of the genetic interval encompassing the WMS gene (12.4 cM). We hope that our ongoing studies will lead to the identification of the disease-causing gene.
Sirisha Senthil - One of the best experts on this subject based on the ideXlab platform.
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Clinical Presentation and Management Outcomes of Coexistent Congenital Glaucoma and Retinopathy of Prematurity.
Journal of glaucoma, 2019Co-Authors: Sirisha Senthil, Pasyanthi Balijepalli, Chandrasekhar Garudadri, Subhadra JalaliAbstract:PURPOSE The purpose of this study was to report presentation and outcomes of coexisting congenital glaucoma with retinopathy of prematurity (ROP) in "Indian Twin cities ROP study (ITCROPS)." METHODS Children with ROP and congenital glaucoma were identified from ITCROPS (prospective digital database) between 1997 and 2016. The presentation, interventions, and outcomes for glaucoma and ROP were evaluated. RESULTS Out of 15,000 premature-infants in the database, 3000 children had ROP, and of these 87 eyes of 57 premature children had glaucoma. Five eyes (5.7%) of 3 children in the entire ROP cohort had coexisting congenital glaucoma (before any ROP intervention), 3 eyes of 2 children had primary congenital glaucoma and 2 eyes of one child had glaucoma with Microspherophakia. The mean age at surgery was 2.7±0.6 months. At presentation, all eyes had corneal edema, mean corneal diameter was 10.3±0.75 mm and IOP was 20.4±1.67 mm Hg. Three eyes had stage-2 ROP and two eyes had stage-3 ROP. Four eyes received intravitreal Bevacizumab. All eyes underwent combined trabeculotomy with trabeculectomy. Post glaucoma surgery, 2 eyes underwent laser for ROP and 1 eye with stage-2 ROP was observed with no treatment. ROP regressed without any sequalae in all 5 eyes. Two eyes with Microspherophakia and one eye with lens coloboma underwent lensectomy. One eye postlensectomy needed Ahmed glaucoma valve implant for IOP control. The mean IOP at last follow-up was 13.6±1.67 mm Hg and all eyes needed topical antiglaucoma medications for IOP control. CONCLUSIONS Congenital glaucoma coexisting with ROP is a medical emergency. Intravitreal therapy can help tide over the vision-threatening fulminant phase of ROP while awaiting the effect of glaucoma surgery on corneal clarity. The need for medications even after glaucoma surgery suggests severe glaucoma phenotype. Close coordination between subspecialties is needed for best outcomes.
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Recurrent spontaneous scleral rupture in Marfan's syndrome.
BMJ case reports, 2016Co-Authors: Kiranmaye Turaga, Sirisha Senthil, Subhadra JalaliAbstract:The ocular manifestations of Marfan9s syndrome (MS) range from ectopia lentis, Microspherophakia, myopia, glaucoma and retinal detachment. Spontaneous scleral rupture is a rare complication and recurrent scleral perforation is extremely rare. We report a rare case of a 26-year-old male with MS who had sequential recurrent spontaneous scleral rupture which required surgical repair. He suffered from a similar problem 4 years later in both eyes in a different location, with overlying thin cystic blebs and hypotony maculopathy. Surgical repair with preserved scleral donor patch graft and conjunctival autograft in one eye, and conjunctival advancement in the other eye was performed. This helped stabilise the eyes, and resulted in complete visual recovery in both eyes.
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Outcomes of trabeculectomy in Microspherophakia.
Indian journal of ophthalmology, 2014Co-Authors: Sirisha Senthil, Harsha L. Rao, Jonnadula G. Babu, Anil K Mandal, Uday K. Addepalli, Chandra S. GarudadriAbstract:Micropherophakia is a rare developmental anomaly of the crystalline lens in which the lens assumes a spherical shape with increased antero-posterior and reduced equatorial diameter.[1] The condition is bilateral and can occur either as an isolated anomaly or with associated systemic disorders such as Weill-Marchesani syndrome (WMS) or Marfan's syndrome.[1,2,3] The hallmark of this condition is visibility of the equator of the lens on full mydriasis [Fig. 1a]. The condition is associated with subluxated or dislocated lens, progressive myopia, defective accommodation, glaucoma and retinal detachment.[4] Glaucoma is the most common sight threatening complication,[4,5,6,7,8,9,10] affecting more than 50% of the eyes associated with this condition.[11] The spherical and anteriorly positioned lens results in shallow anterior chamber, predisposing these eyes to angle closure glaucoma. Acute angle-closure can result from pupillary block caused by anteriorly subluxated or dislocated spherophakic lens.[4,5] Recurrent attacks of pupillary block by spherophakic lens can lead to chronic synechial angle closure and glaucoma.[6,7] Though less frequent, secondary open angle glaucoma due to developmental anomaly of the drainage angle has been described in eyes with Microspherophakia.[2,6] Figure 1 (a) Clinical picture of Microspherophakia with the lens equator visible in a dilated pupil. (b): A post-trabeculectomy day three picture of a microspherophakic eye with primary air injection showing a diffuse bleb, well-formed anterior chamber and a small ... Glaucoma associated with Microspherophakia is difficult to manage with close to 60% of the eyes failing medical and laser treatment. These eyes often require surgical intervention for IOP control.[11] Various surgical modalities have been described to manage glaucoma in Microspherophakia, which include lensectomy, goniosynechiolysis, trabeculectomy, drainage implants or a combination of these procedures. The available evidence so far is from isolated case descriptions with limited follow up.[2,12,13,14,15] The outcomes of trabeculectomy in eyes with glaucoma associated with Microspherophakia has not been reported so far and hence this communication.
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Glaucoma in Microspherophakia: presenting features and treatment outcomes.
Journal of glaucoma, 2014Co-Authors: Sirisha Senthil, Harsha L. Rao, Anil K Mandal, Uday K. Addepalli, Nguyen T.q. Hoang, Ganesh Babu Jonnadula, Chandra Sekhar GarudadariAbstract:PURPOSE To report the clinical features, management, and treatment outcomes of glaucoma in Microspherophakia. METHODS Medical records of 159 eyes of 80 subjects with Microspherophakia were reviewed. The clinical features at presentation, presence of glaucoma, methods of treatment, and their outcomes were noted. Glaucoma was diagnosed based on intraocular pressure (IOP)≥22 mm Hg on 2 different occasions and/or glaucomatous optic disc damage. Angle closure was defined as occludable angles >270 degrees with or without presence of peripheral anterior synechiae. RESULTS Glaucoma was diagnosed in 81 eyes (51%). The mean age of subjects was 20±13 years, mean refractive error was -13.5±5.5, the mean IOP was 27.7±11.1 mm Hg. IOP≥22 mm Hg was present in 84% of eyes, disc damage in 59% of the eyes, 75% eyes had angle closure, and 25% had open angle on gonioscopy. Subluxation of crystalline lens was seen in 53 eyes and 14 eyes had dislocation of the lens; systemic associations were present in 21 subjects (3 Marfan syndrome, 18 Weill-Marchesani syndrome). Nine eyes out of 51 and 2 out of 16 eyes responded to medical treatment and laser iridotomy, respectively. Of the 48 eyes that required surgical intervention, 24 eyes underwent trabeculectomy. Complete success probability of trabeculectomy was 86% [95% confidence interval (CI), 63%-95%] at 6 months, 77% (95% CI, 53%-90%) at 1 year, which was maintained till 7 years, and reduced to 61% (95% CI, 26%-84%) at 8 years. Nearly 20% of eyes at presentation and 30% of the eyes at last follow-up were blind due to glaucoma. CONCLUSIONS More than half of the eyes with Microspherophakia in this series presented with glaucoma; angle closure was the predominant form of glaucoma. Blindness due to glaucoma in Microspherophakia was 20% to 30%.
Jun Hyuk Son - One of the best experts on this subject based on the ideXlab platform.
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Acute angle-closure glaucoma in a highly myopic patient secondary to Weill–Marchesani syndrome: histopathologic lens features
International Ophthalmology, 2016Co-Authors: Su-ho Lim, Jun Hyuk Son, Soon Cheol ChaAbstract:The authors describe a case of acute angle-closure glaucoma in a highly myopic patient secondary to Weill–Marchesani syndrome (WMS) and histopathologic features of his lens. A 37-year-old male patient visited our clinic for ocular pain with elevated intraocular pressure (19/57 mmHg). The slit-lamp examination showed an inferiorly subluxated lens in the right eye, and anterior dislocated Microspherophakia with corneolenticular contact in the left eye. The physical examination showed brachydactyly and relatively short stature. To control the IOP and to improve visual acuity, lens extraction, anterior vitrectomy, and scleral-sutured IOL implantation surgery were performed. To the best of our knowledge, this is the first histopathologic report of bilateral lens in a Korean patient with WMS. The pathologic specimens showed epithelial cell changes, hyaloid degeneration, and subcapsular cortical fiber changes. The authors attributed these changes to physical and mechanical factors because the lens is highly mobile and often comes in contact with the iris.
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Acute angle-closure glaucoma in a highly myopic patient secondary to Weill-Marchesani syndrome: histopathologic lens features.
International ophthalmology, 2016Co-Authors: Su-ho Lim, Jun Hyuk Son, Soon Cheol ChaAbstract:The authors describe a case of acute angle-closure glaucoma in a highly myopic patient secondary to Weill-Marchesani syndrome (WMS) and histopathologic features of his lens. A 37-year-old male patient visited our clinic for ocular pain with elevated intraocular pressure (19/57 mmHg). The slit-lamp examination showed an inferiorly subluxated lens in the right eye, and anterior dislocated Microspherophakia with corneolenticular contact in the left eye. The physical examination showed brachydactyly and relatively short stature. To control the IOP and to improve visual acuity, lens extraction, anterior vitrectomy, and scleral-sutured IOL implantation surgery were performed. To the best of our knowledge, this is the first histopathologic report of bilateral lens in a Korean patient with WMS. The pathologic specimens showed epithelial cell changes, hyaloid degeneration, and subcapsular cortical fiber changes. The authors attributed these changes to physical and mechanical factors because the lens is highly mobile and often comes in contact with the iris.