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BMJ Case Reports May 2016The ocular manifestations of Marfan's syndrome (MS) range from ectopia lentis, microspherophakia, myopia, glaucoma and retinal detachment. Spontaneous scleral rupture is...
The ocular manifestations of Marfan's 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.
Topics: Adult; Autografts; Conjunctiva; Humans; Male; Marfan Syndrome; Rupture, Spontaneous; Sclera; Scleral Diseases; Treatment Outcome; Visual Acuity
PubMed: 27199441
DOI: 10.1136/bcr-2016-214764 -
BMJ Case Reports Apr 2016A 16-year-old boy presented with decrease of vision over a period of 2 years. On examination, he was diagnosed to have microspherophakia with lenticular myopia with...
A 16-year-old boy presented with decrease of vision over a period of 2 years. On examination, he was diagnosed to have microspherophakia with lenticular myopia with secondary glaucoma in both eyes. He was treated by lens aspiration and two-point capsular support using a modified capsular tension ring (M-CTR) and capsular tension segment (CTS) sutured to the sclera along with implantation of a foldable intraocular lens inside the bag. Lens aspiration was performed without artificial capsular hook support of the bag, as the lens was soft and vitreous was formed. However, M-CTR rotation into the bag was fraught with repeated adherence of the advancing end of the M-CTR into the loose bag causing simultaneous rotation of the bag with the rotation of the ring resulting in transient increase in bag subluxation. Capsular hooks provided appropriate countertraction to the unsupported bag, thus facilitating easy insertion and rotation of the ring into the bag.
Topics: Adolescent; Corneal Diseases; Ectopia Lentis; Glaucoma; Humans; Iris; Lens Capsule, Crystalline; Lens Implantation, Intraocular; Lens Subluxation; Lenses, Intraocular; Male; Microsurgery; Myopia; Phacoemulsification; Sclera
PubMed: 27048263
DOI: 10.1136/bcr-2015-214274 -
BMC Ophthalmology Jan 2015To report the diagnostic features and management strategy of a rare case of Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction. (Review)
Review
BACKGROUND
To report the diagnostic features and management strategy of a rare case of Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction.
CASE PRESENTATION
A patient presented with advanced glaucoma with an intraocular pressure of 49 mmHg in the left eye, and subsequently received trabeculectomy to control the intraocular pressure. Surprisingly, slit lamp examination through the dilated pupil revealed a dislocated microspherophakic lens almost touching the corneal endothelium. A microspherophakic lens was confirmed by anterior segment optical coherence tomography. Weill-Marchesani syndrome was then diagnosed by ocular examinations, and was accompanied by systemic abnormalities, including brachymorphia and brachydactyly. Corneal endothelial microscopy showed severe corneal endothelial dysfunction, and lens extraction and intraocular lens implantation were subsequently performed to prevent further endothelial damage. At the 1-year follow-up visit, the patient had well-controlled intraocular pressure, transparent cornea, and normal anterior chamber depth, while the intraocular lens remained correctly in place.
CONCLUSIONS
Weill-Marchesani syndrome could be diagnosed by microspherophakia, high myopia, secondary glaucoma, and systemic abnormalities such as brachymorphia and brachydactyly. Removal of the microspherophakia is recommended to control intraocular pressure and improve vision. Advanced glaucoma in Weill-Marchesani syndrome should be treated with combined glaucoma surgery and lens extraction.
Topics: Adult; Corneal Diseases; Ectopia Lentis; Female; Glaucoma; Humans; Iris; Lens Implantation, Intraocular; Lens Subluxation; Treatment Outcome; Weill-Marchesani Syndrome
PubMed: 25571963
DOI: 10.1186/1471-2415-15-3 -
Indian Journal of Ophthalmology Nov 2014
PubMed: 25494262
DOI: 10.4103/0301-4738.146738 -
European Journal of Human Genetics :... Sep 2015Weill-Marchesani syndrome is a rare disorder of the connective tissue. Functional variants in ADAMTS10 are associated with Weill-Marchesani syndrome-1. We identified a...
Weill-Marchesani syndrome is a rare disorder of the connective tissue. Functional variants in ADAMTS10 are associated with Weill-Marchesani syndrome-1. We identified a homozygous missense mutation, c.41T>A, of the ADAMTS10 gene in a 19-year-old female with typical symptoms of WMS1: proportionate short stature, brachydactyly, joint stiffness, and microspherophakia. The ADAMTS10 missense mutation was analysed in silico, with conflicting results as to its effects on protein function, but it was predicted to affect the leader sequence. Molecular characterisation in HEK293 Ebna cells revealed an intracellular mis-targeting of the ADAMTS10 protein with a reduced concentration of the polypeptide in the endoplasmic reticulum. A large reduction in glycosylation of the cytoplasmic fraction of the mutant ADAMTS10 protein versus the wild-type protein and a lack of secretion of the mutant protein are also evident in our results.In conclusion, we identified a novel missense mutation of the ADAMTS10 gene and confirmed the functional consequences suggested by the in silico analysis by conducting molecular studies.
Topics: Female; Humans; Young Adult; ADAM Proteins; ADAMTS Proteins; Amino Acid Sequence; Base Sequence; Computer Simulation; Endoplasmic Reticulum; Gene Expression; Genotype; Glycosylation; HEK293 Cells; Homozygote; Molecular Sequence Data; Mutation, Missense; Pedigree; Phenotype; Protein Transport; Sequence Analysis, DNA; Weill-Marchesani Syndrome
PubMed: 25469541
DOI: 10.1038/ejhg.2014.264 -
Eye (London, England) Mar 2015A number of ocular complications have been reported in microspherophakia. The literature however is limited to small case reports and the incidence of these...
INTRODUCTION
A number of ocular complications have been reported in microspherophakia. The literature however is limited to small case reports and the incidence of these complications is largely unknown. Our study describes a series of patients who presented to our hospital from 1998 to 2008.
MATERIAL AND METHODS
Data on the clinical and surgical findings of patients presented to us from 1998 to 2008 with microspherophakia were retrieved from the medical records and the results analyzed.
RESULTS
Thirty-six eyes of 18 patients were reviewed. The mean age at presentation was 16±10 years. All patients had varying degrees of lenticular myopia with a mean of -11.07±5.03 D. Glaucoma developed in 16 eyes (44.4%). Half of them had high IOP at presentation. Despite medical and surgical management IOP remained high in five eyes at the last follow-up. Sixteen eyes (44.4%) required lensectomy for dislocated crystalline lens. Lensectomy did not have any impact on the intraocular pressures. Homocysteinuria was the most common systemic association noted.
CONCLUSION
Microspherophakia is associated with a high incidence of lenticular myopia, subluxation of the crystalline lens and glaucoma. Management of glaucoma is difficult with the IOP remaining high in spite of combined medical and surgical management.
Topics: Adolescent; Adult; Child; Child, Preschool; Corneal Diseases; Ectopia Lentis; Filtering Surgery; Glaucoma; Homocystinuria; Humans; Incidence; Intraocular Pressure; Iris; Lens Subluxation; Myopia; Tonometry, Ocular; Visual Acuity; Young Adult
PubMed: 25397784
DOI: 10.1038/eye.2014.250 -
Human Molecular Genetics Nov 2014Latent TGF-β-binding protein-2 (LTBP-2) is an extracellular matrix protein associated with microfibrils. Homozygous mutations in LTBP2 have been found in humans with...
Latent TGF-β-binding protein-2 (LTBP-2) is an extracellular matrix protein associated with microfibrils. Homozygous mutations in LTBP2 have been found in humans with genetic eye diseases such as congenital glaucoma and microspherophakia, indicating a critical role of the protein in eye development, although the function of LTBP-2 in vivo has not been well understood. In this study, we explore the in vivo function of LTBP-2 by generating Ltbp2(-/-) mice. Ltbp2(-/-) mice survived to adulthood but developed lens luxation caused by compromised ciliary zonule formation without a typical phenotype related to glaucoma, suggesting that LTBP-2 deficiency primarily causes lens dislocation but not glaucoma. The suppression of LTBP2 expression in cultured human ciliary epithelial cells by siRNA disrupted the formation of the microfibril meshwork by the cells. Supplementation of recombinant LTBP-2 in culture medium not only rescued the microfibril meshwork formation in LTBP2-suppressed ciliary epithelial cells but also restored unfragmented and bundled ciliary zonules in Ltbp2(-/-) mouse eyes under organ culture. Although several reported human mutant LTBP-2 proteins retain normal domain structure and keep the fibrillin-1-binding site intact, none of these mutant proteins were secreted from their producing cells, suggesting secretion arrest occurred to the LTBP-2 mutants owing to conformational alteration. The findings of this study suggest that LTBP-2 is an essential component for the formation of microfibril bundles in ciliary zonules.
Topics: Animals; Cell Line; Cilia; Ectopia Lentis; Epithelial Cells; Fibrillin-1; Fibrillins; Gene Knockout Techniques; Gene Targeting; Genotype; Glaucoma; Humans; Latent TGF-beta Binding Proteins; Mice; Mice, Knockout; Microfibrils; Microfilament Proteins; Mutation; Phenotype; Protein Binding
PubMed: 24908666
DOI: 10.1093/hmg/ddu283