Literature DB >> 23479050

Atypical presentation of ectopia lentis in Marfan's syndrome.

Mridu Chaudhry1, Samit Grover, Shikha Baisakhiya, Neha Sharma, Aakarsh Bajaj.   

Abstract

The purpose of this article is to report an unusual bilateral inferior subluxation of the lens in a patient with Marfan's syndrome. A 14-year-old boy presented with gradual painless diminution of vision in both eyes. His family history showed that his maternal uncle also had similar complaints. Systemic examination of the patient revealed no neurological deficits. Cardiovascular system examination was unremarkable. Hands and fingers were long and slender with hyperflexible joints. The ratio of arm spam to height was 1.06. He was myopic with a best-corrected visual acuity of 6/24 with -11 D spherical/- 2 D cylindrical in both eyes. Anterior chambers were deep with the presence of mild iridodonesis in both eyes. Pupillary reactions were sluggish. On pupillary dilatation, the lens was found to be subluxated inferiorly which is unlike the typical superotemporal subluxation of the lens in Marfan's syndrome. The diagnosis of Marfan's syndrome is usually made on clinical examination only, as there is no specific investigation for this condition; however, it may have atypical presentations. Therefore, it is important to recognize and report such atypical cases.

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Year:  2013        PMID: 23479050     DOI: 10.1007/s10792-013-9750-6

Source DB:  PubMed          Journal:  Int Ophthalmol        ISSN: 0165-5701            Impact factor:   2.031


  6 in total

1.  HOMOCYSTINURIA. STUDIES OF 20 FAMILIES WITH 38 AFFECTED MEMBERS.

Authors:  R N SCHIMKE; V A MCKUSICK; T HUANG; A D POLLACK
Journal:  JAMA       Date:  1965-08-30       Impact factor: 56.272

2.  Revised diagnostic criteria for the Marfan syndrome.

Authors:  A De Paepe; R B Devereux; H C Dietz; R C Hennekam; R E Pyeritz
Journal:  Am J Med Genet       Date:  1996-04-24

Review 3.  Marfan syndrome-diagnosis and management.

Authors:  Naser M Ammash; Thoralf M Sundt; Heidi M Connolly
Journal:  Curr Probl Cardiol       Date:  2008-01       Impact factor: 5.200

4.  Determinants of quality of life in Marfan syndrome.

Authors:  Paolo Fusar-Poli; Catherine Klersy; Francesca Stramesi; Aliria Callegari; Eloisa Arbustini; Pierluigi Politi
Journal:  Psychosomatics       Date:  2008 May-Jun       Impact factor: 2.386

5.  Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations.

Authors:  Laurence Faivre; Alice Masurel-Paulet; Gwenaëlle Collod-Béroud; Bert L Callewaert; Anne H Child; Chantal Stheneur; Christine Binquet; Elodie Gautier; Bertrand Chevallier; Frédéric Huet; Bart L Loeys; Eloisa Arbustini; Karin Mayer; Mine Arslan-Kirchner; Anatoli Kiotsekoglou; Paolo Comeglio; Maurizia Grasso; Dorothy J Halliday; Christophe Béroud; Claire Bonithon-Kopp; Mireille Claustres; Peter N Robinson; Lesley Adès; Julie De Backer; Paul Coucke; Uta Francke; Anne De Paepe; Catherine Boileau; Guillaume Jondeau
Journal:  Pediatrics       Date:  2009-01       Impact factor: 7.124

6.  Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.

Authors:  K Kainulainen; L Karttunen; L Puhakka; L Sakai; L Peltonen
Journal:  Nat Genet       Date:  1994-01       Impact factor: 38.330

  6 in total
  1 in total

1.  Bimanual irrigation-aspiration for ectopia lentis and use of a small incision for 4-point scleral-sutured foldable intraocular lens and anterior vitrectomy in patients with Marfan syndrome.

Authors:  Zhenmao Wang; Yan Lu; Kailin Xiao; Ying Gao; Jing He; Shaobin Zhang; Geng Wang; Mingzhi Zhang
Journal:  Indian J Ophthalmol       Date:  2019-10       Impact factor: 1.848

  1 in total

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