Literature DB >> 32174599

Recurrent unintentional filtering blebs after vitrectomy: A case report.

P Mahesh Shanmugam1, Pradeep Sagar1, Vinaya K Konana1, Sriram Simakurthy1, Rajesh Ramanjulu1, Abhishek Sheemar1, K C Divyansh Mishra1.   

Abstract

A lady who underwent lensectomy for microspherophakia and pars plana vitrectomy for retinal detachment in her left eye developed recurrent filtering blebs at the site of sclerotomies. Filtering blebs were managed by suturing the sclerotomies. Targeted gene sequencing identified a variant of ASPH gene (p.Arg688Gln) which is not known to be associated with Traboulsi syndrome. But considering the paucity of cases with genetic analysis, it would be possible that p.Arg688Gln is a pathogenic variant. This is the first case report of Traboulsi syndrome due to an ASPH variant not reported earlier that can lead to recurrent filtering blebs.

Entities:  

Keywords:  Microspherophakia; Traboulsi syndrome; pars plana vitrectomy; unintentional filtering blebs

Mesh:

Year:  2020        PMID: 32174599      PMCID: PMC7210861          DOI: 10.4103/ijo.IJO_1249_19

Source DB:  PubMed          Journal:  Indian J Ophthalmol        ISSN: 0301-4738            Impact factor:   1.848


  9 in total

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Journal:  Arch Ophthalmol       Date:  1964-01

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Authors:  S Moghimi; M Soleimani; R Soltani
Journal:  Eye (Lond)       Date:  2009-04-17       Impact factor: 3.775

4.  Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.

Authors:  Nisha Patel; Arif O Khan; Ahmad Mansour; Jawahir Y Mohamed; Abdullah Al-Assiri; Randa Haddad; Xiaofei Jia; Yong Xiong; André Mégarbané; Elias I Traboulsi; Fowzan S Alkuraya
Journal:  Am J Hum Genet       Date:  2014-04-24       Impact factor: 11.025

5.  A family with a syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism.

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Journal:  Ophthalmic Genet       Date:  1995-12       Impact factor: 1.803

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8.  Two cases of spontaneous filtering blebs, one idiopathic and one associated with Terrien marginal degeneration.

Authors:  Monique Munro; John McWhae; Kenneth Romanchuk; Andrew Crichton; Gordon Carter; Arlene Ball
Journal:  Cornea       Date:  2014-07       Impact factor: 2.651

9.  Anterior segment imaging and treatment of a case with syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism.

Authors:  Ahmad M Mansour; Mohammad H Younis; Rola H Dakroub
Journal:  Case Rep Ophthalmol       Date:  2013-04-25
  9 in total
  2 in total

1.  Small-molecule active pharmaceutical ingredients of approved cancer therapeutics inhibit human aspartate/asparagine-β-hydroxylase.

Authors:  Lennart Brewitz; Anthony Tumber; Xiaojin Zhang; Christopher J Schofield
Journal:  Bioorg Med Chem       Date:  2020-08-06       Impact factor: 3.641

2.  Whole-exome sequencing identified a novel homozygous ASPH frameshift variant causing Traboulsi syndrome in a Chinese family.

Authors:  Cheng Lei; Ting Guo; Shuizi Ding; Liyan Liao; Hong Peng; Zhiping Tan; Hong Luo
Journal:  Mol Genet Genomic Med       Date:  2020-11-20       Impact factor: 2.183

  2 in total

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