Literature DB >> 22526006

[Bilateral visual loss in a young male patient].

N Terai1, F Raiskup.   

Abstract

We present the case of a 36-year-old male patient who presented with an increasing bilateral loss of vision which had existed for several years. Slit-lamp examination revealed a conical anterior protusion of the lens and funduscopy showed a discreet perimacular dot and fleck retinopathy. In consideration of all clinical findings the patient was diagnosed with anterior lenticonus as an ocular manifestation of an Alport's syndrome which is a rare X-linked disease. Besides renal failure and hearing loss which occur early, ocular changes usually manifest later on. Patients with a anterior lenticonus can be effectively treated with phacoemulsification and intraocular lens implantation. The visual outcome after surgery is excellent.

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Mesh:

Year:  2012        PMID: 22526006     DOI: 10.1007/s00347-012-2540-0

Source DB:  PubMed          Journal:  Ophthalmologe        ISSN: 0941-293X            Impact factor:   1.059


  14 in total

1.  Ocular abnormalities in thin basement membrane disease.

Authors:  D Colville; J Savige; P Branley; D Wilson
Journal:  Br J Ophthalmol       Date:  1997-05       Impact factor: 4.638

2.  Phacoemulsification and intraocular lens implantation in Alport syndrome with anterior lenticonus.

Authors:  Mohammad Ali Zare; Mohammad Taher Rajabi; Mehdi Nili-Ahmadabadi; Syed Jafar Oskouee; Sasan Moghimi
Journal:  J Cataract Refract Surg       Date:  2007-06       Impact factor: 3.351

3.  Lens capsule abnormalities in Alport's syndrome.

Authors:  B W Streeten; M R Robinson; R Wallace; D B Jones
Journal:  Arch Ophthalmol       Date:  1987-12

4.  A comparison of the clinical, histopathologic, and ultrastructural phenotypes in carriers of X-linked and autosomal recessive Alport's syndrome.

Authors:  H Dagher; M Buzza; D Colville; C Jones; H Powell; R Fassett; D Wilson; J Agar; J Savige
Journal:  Am J Kidney Dis       Date:  2001-12       Impact factor: 8.860

Review 5.  Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes.

Authors:  C E Kashtan
Journal:  Medicine (Baltimore)       Date:  1999-09       Impact factor: 1.889

6.  X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.

Authors:  Jean Philippe Jais; Bertrand Knebelmann; Iannis Giatras; Mario DE Marchi; Gianfranco Rizzoni; Alessandra Renieri; Manfred Weber; Oliver Gross; Kai-Olaf Netzer; Frances Flinter; Yves Pirson; Christine Verellen; Jörgen Wieslander; Ulf Persson; Karl Tryggvason; Paula Martin; Jens Michael Hertz; Cornelis Schröder; Marek Sanak; Sarka Krejcova; Maria Fernanda Carvalho; Juan Saus; Corinne Antignac; Hubert Smeets; Marie Claire Gubler
Journal:  J Am Soc Nephrol       Date:  2000-04       Impact factor: 10.121

7.  Ocular manifestations of Alport's syndrome: a hereditary disorder of basement membranes?

Authors:  J A Govan
Journal:  Br J Ophthalmol       Date:  1983-08       Impact factor: 4.638

8.  Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples.

Authors:  Bárbara Tazón-Vega; Elisabet Ars; Moisès Burset; Sheila Santín; Patricia Ruíz; Patricia Fernández-Llama; José Ballarín; Roser Torra
Journal:  Am J Kidney Dis       Date:  2007-08       Impact factor: 8.860

Review 9.  Opinion: Ocular features aid the diagnosis of Alport syndrome.

Authors:  Judy Savige; Deb Colville
Journal:  Nat Rev Nephrol       Date:  2009-06       Impact factor: 28.314

10.  An electrophysiological study on children and young adults with Alport's syndrome.

Authors:  B G Jeffrey; M Jacobs; G Sa; T M Barratt; D Taylor; A Kriss
Journal:  Br J Ophthalmol       Date:  1994-01       Impact factor: 4.638

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