Literature DB >> 8749053

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

S Shawaf1, B Noureddin, A Khouri, E I Traboulsi.   

Abstract

Six members of a family presented with a syndrome of mild facial dysmorphism, subluxation of the crystalline lenses, variable degrees of angle closure by iridocorneal adhesions, and patchy areas of iris atrophy. Three nonoperated eyes of two patients had spontaneous filtering blebs that presented as avascular cystic elevations of the superior conjunctiva. Systemic workup of all patients was negative for evidence of diseases known to be associated with dislocated lenses. The pedigree is most compatible with autosomal recessive inheritance with pseudodominance.

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Year:  1995        PMID: 8749053     DOI: 10.3109/13816819509057858

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN: 1381-6810            Impact factor:   1.803


  8 in total

1.  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

2.  Recurrent unintentional filtering blebs after vitrectomy: A case report.

Authors:  P Mahesh Shanmugam; Pradeep Sagar; Vinaya K Konana; Sriram Simakurthy; Rajesh Ramanjulu; Abhishek Sheemar; K C Divyansh Mishra
Journal:  Indian J Ophthalmol       Date:  2020-04       Impact factor: 1.848

3.  A rare ocular complication of neisseria gonorrhoeae.

Authors:  Thiago Gonçalves Dos Santos Martins; Ana Luiza Fontes de Azevedo Costa
Journal:  Ir J Med Sci       Date:  2018-01-18       Impact factor: 1.568

Review 4.  Bilateral idiopathic spontaneous filtering bleb with ectopia lentis: A case report and review of literature.

Authors:  Premanand Chandran; Anjali S Khairnar; Nabeed Aboobacker; Ganesh V Raman
Journal:  Indian J Ophthalmol       Date:  2018-01       Impact factor: 1.848

5.  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

6.  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

7.  Response to comment on: Bilateral idiopathic spontaneous filtering bleb with ectopia lentis: A case report and review of literature.

Authors:  Premanand Chandran; Anjali S Khairnar; Nabeed Aboobacker; Ganesh V Raman
Journal:  Indian J Ophthalmol       Date:  2018-04       Impact factor: 1.848

8.  Bilateral spontaneous filtering blebs.

Authors:  Massood Mohammadi; Seyed Mehdi Tabatabaei
Journal:  Am J Ophthalmol Case Rep       Date:  2020-09-30
  8 in total

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