Literature DB >> 8689488

Alport's syndrome with bilateral macular hole.

U O Mete1, C Karaaslan, M K Ozbilgin, S Polat, O Tap, M Kaya.   

Abstract

In this study 8 patients with Alport's syndrome are presented. The ocular manifestations of these patients were retinal flecks, macular depigmentation, microspherophakia and anterior lenticonus. One patient revealed bilateral macular hole which was an unusual feature. Four patients had renal biopsies with the characteristic electron microscopic changes of the disease. According to these findings our conclusion is that Alport's syndrome is a disorder of selected basement membranes.

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Year:  1996        PMID: 8689488     DOI: 10.1111/j.1600-0420.1996.tb00688.x

Source DB:  PubMed          Journal:  Acta Ophthalmol Scand        ISSN: 1395-3907


  10 in total

Review 1.  [Macular hole. Survey and relevant surgical concepts].

Authors:  S Dithmar
Journal:  Ophthalmologe       Date:  2005-02       Impact factor: 1.059

Review 2.  Ocular features in Alport syndrome: pathogenesis and clinical significance.

Authors:  Judy Savige; Shivanand Sheth; Anita Leys; Anjali Nicholson; Heather G Mack; Deb Colville
Journal:  Clin J Am Soc Nephrol       Date:  2015-02-03       Impact factor: 8.237

3.  Macular hole in juvenile X-linked retinoschisis.

Authors:  Nayef Al-Swaina; Sawsan R Nowilaty
Journal:  Saudi J Ophthalmol       Date:  2013-05-30

4.  A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations.

Authors:  Mardhiah Mohammad; Ranjit Nanra; Deb Colville; Paul Trevillian; Yanyan Wang; Helen Storey; Frances Flinter; Judy Savige
Journal:  Pediatr Nephrol       Date:  2013-12-12       Impact factor: 3.714

5.  Retinal basement membrane abnormalities and the retinopathy of Alport syndrome.

Authors:  Judy Savige; John Liu; Delia Cabrera DeBuc; James T Handa; Gregory S Hageman; Yan Yan Wang; John D Parkin; Brendan Vote; Rob Fassett; Shirley Sarks; Deb Colville
Journal:  Invest Ophthalmol Vis Sci       Date:  2009-10-22       Impact factor: 4.799

Review 6.  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

7.  Microspherophakia in a 47, XYY Syndrome Patient: A Case Report.

Authors:  Maria Lourdes Rubalcava-Soberanis; Bani Antonio-Aguirre; Cristina Mendoza Velásquez; Andric Christopher Perez-Ortiz; Claudia Palacio-Pastrana
Journal:  Case Rep Ophthalmol       Date:  2020-01-03

Review 8.  Ocular Manifestations and Potential Treatments of Alport Syndrome: A Systematic Review.

Authors:  Rahul Ramakrishnan; Atira Shenoy; Damon Meyer
Journal:  J Ophthalmol       Date:  2022-09-08       Impact factor: 1.974

9.  A novel splice site mutation in the COL4A5 gene in a Chinese female patient with rare ocular abnormalities.

Authors:  Chan Zhao; Fang Wang; Yanqin Zhang; Yubing Wen; Ying Su; Chengfen Zhang; Ruifang Sui; Fei Xu; Jie Ding; Fangtian Dong
Journal:  Mol Vis       Date:  2012-08-08       Impact factor: 2.367

10.  Increased Subfoveal Choroidal Thickness and Retinal Structure Changes on Optical Coherence Tomography in Pediatric Alport Syndrome Patients.

Authors:  Seda Karaca Adıyeke; Gamze Ture; Fatma Mutlubaş; Hasan Aytoğan; Onur Vural; Neslisah Kutlu Uzakgider; Gulsah Talay Dayangaç; Ekrem Talay
Journal:  J Ophthalmol       Date:  2019-01-21       Impact factor: 1.909

  10 in total

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