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      Bilateral Toric Phakic Intraocular Lens Implantation for Correction of High Myopic Astigmatism in a Patient with Marfan Syndrome with Lens Coloboma: A Case Report

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          Marfan syndrome (MFS) is known to cause significant refractive error. Treatment options are limited in this condition for correcting refractive error. Clear lens exchange is done in these cases, but complication rates are high. Loss of accommodation is another concern in these young adults. We report toric phakic intraocular lens (pIOL) implantation in improving the uncorrected visual acuity (UCVA) in a known case of MFS with lens coloboma. A 22-year-old female patient with MFS with inferior lens coloboma underwent bilateral toric pIOL implantation in the same sitting. Pre- and post-operative UCVA and best-corrected visual acuity were assessed. Central and peripheral vaulting of the pIOL in relation to the natural lens was also assessed. UCVA improved from 20/500 to 20/20 in the right and 20/550–20/20 in the left eye. Marked central vaulting with partial peripheral vaulting was achieved. There were no post-operative complications. Phakic IOL implantation surgery could be an effective approach to achieve excellent uncorrected refractive outcome in patients with MFS to treat high myopia.

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          Most cited references 22

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          The revised Ghent nosology for the Marfan syndrome.

          The diagnosis of Marfan syndrome (MFS) relies on defined clinical criteria (Ghent nosology), outlined by international expert opinion to facilitate accurate recognition of this genetic aneurysm syndrome and to improve patient management and counselling. These Ghent criteria, comprising a set of major and minor manifestations in different body systems, have proven to work well since with improving molecular techniques, confirmation of the diagnosis is possible in over 95% of patients. However, concerns with the current nosology are that some of the diagnostic criteria have not been sufficiently validated, are not applicable in children or necessitate expensive and specialised investigations. The recognition of variable clinical expression and the recently extended differential diagnosis further confound accurate diagnostic decision making. Moreover, the diagnosis of MFS--whether or not established correctly--can be stigmatising, hamper career aspirations, restrict life insurance opportunities, and cause psychosocial burden. An international expert panel has established a revised Ghent nosology, which puts more weight on the cardiovascular manifestations and in which aortic root aneurysm and ectopia lentis are the cardinal clinical features. In the absence of any family history, the presence of these two manifestations is sufficient for the unequivocal diagnosis of MFS. In absence of either of these two, the presence of a bonafide FBN1 mutation or a combination of systemic manifestations is required. For the latter a new scoring system has been designed. In this revised nosology, FBN1 testing, although not mandatory, has greater weight in the diagnostic assessment. Special considerations are given to the diagnosis of MFS in children and alternative diagnoses in adults. We anticipate that these new guidelines may delay a definitive diagnosis of MFS but will decrease the risk of premature or misdiagnosis and facilitate worldwide discussion of risk and follow-up/management guidelines.
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            Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.

            Marfan syndrome is an inherited disorder of connective tissue manifested in the ocular, skeletal and cardiovascular systems. It is inherited as an autosomal dominant with high penetrance, but has great clinical variability. Linkage studies have mapped the Marfan locus to chromosome 15q15-21.3. There have been no reports of genetic heterogeneity in the syndrome. Following the identification of fibrillin (a glycoprotein component of the extracellular microfibril), immunohistopathological quantification of the protein in skin and fibroblast culture, and examination of fibrillin synthesis, extracellular transport, and incorporation into the extracellular matrix (D. M. Milewicz, R.E.P., E. S. Crawford and P. H. Byers, manuscript in preparation) have demonstrated abnormalities of fibrillin metabolism in most patients. A portion of the complementary DNA encoding fibrillin has been cloned and mapped by in situ hybridization to chromosome 15. Here we report that the fibrillin gene is linked to the Marfan phenotype (theta = 0.00; logarithm of the odds (lod) = 3.9) and describe a de novo missense mutation in the fibrillin gene in two patients with sporadic disease. We thus implicate fibrillin as the protein defective in patients with the Marfan syndrome.
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              The eye in the Marfan syndrome.

               I H Maumenee (1981)
              One hundred sixty consecutive patients with the Marfan syndrome were reviewed for ocular, cardiovascular, and skeletal abnormalities, and were graded by severity. The most striking ocular abnormality was enlargement of the globe, presumably caused by scleral stretching. Staphylomata were not a feature of any of the patients seen, nor was keratoconus. The cornea, in fact, was flattened but not thinned. Among the 160 patients, 193 eyes showed dislocation of the lens. Dislocation of the lens was positively correlated with increased ocular axial length and with decreasing KJ readings. We postulate that the ocular pathologic changes are primarily caused by stretching of the tunica scleralis, and that the zonular fibers (thus under stress may "give" or may rupture in their area of presumably least density which may be the area of developmental fusion of the optic vesicle. In a small proportion of cases the lens dislocation was progressive. There was no correlation between ocular findings, on one hand, and the skeletal and cardiovascular abnormalities on the other. However, there was a good degree of intrafamilial consistency with regard to absence or presence of ocular pathology. The absence of correlation between the ocular and systemic findings in our data on these 160 patients is best explained by the existence of more than 1 point mutation, which may give rise to different but clinically similar phenotypes. The results of our calculations of mutation rate were compatible with such an explanation.

                Author and article information

                Case Reports in Ophthalmology
                S. Karger AG
                January - April 2021
                12 April 2021
                : 12
                : 1
                : 208-213
                Bharti Eye Foundation and Hospital, New Delhi, India
                513345 Case Rep Ophthalmol 2021;12:208–213
                © 2021 The Author(s). Published by S. Karger AG, Basel

                This article is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC). Usage and distribution for commercial purposes requires written permission. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

                Page count
                Figures: 4, Pages: 6
                Case Report

                Vision sciences, Ophthalmology & Optometry, Pathology

                Phakic intraocular lens, Marfan syndrome, Myopia


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