Literature DB >> 29582840

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

Premanand Chandran1, Anjali S Khairnar1, Nabeed Aboobacker1, Ganesh V Raman1.   

Abstract

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Year:  2018        PMID: 29582840      PMCID: PMC5892082          DOI: 10.4103/ijo.IJO_249_18

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


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Dear Sir, We thank for the interest shown in our article and for sharing the details of your patient with similar clinical picture.[12] We agree that the facial dysmorphic features are subtle in Traboulsi syndrome or facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, which is due to mutation in aspartyl/asparaginyl β-hydroxylase.[3] We compared our patient's facial features [Fig. 1a and b] with the pictures of patients diagnosed with Traboulsi syndrome,[456] and our patient's facial feature is not as typical as the ones mentioned in the literature. Taking the entire clinical picture into account, he may be a patient with Traboulsi syndrome but needs genetic testing to confirm the diagnosis.
Figure 1

Profile picture of the patient, front (a) and side (b) view

Profile picture of the patient, front (a) and side (b) view

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Nil.

Conflicts of interest

There are no conflicts of interest.
  6 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.  A family with a syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism.

Authors:  S Shawaf; B Noureddin; A Khouri; E I Traboulsi
Journal:  Ophthalmic Genet       Date:  1995-12       Impact factor: 1.803

3.  Confirmation of the autosomal recessive syndrome of ectopia lentis and distinctive craniofacial appearance.

Authors:  R Haddad; S Uwaydat; R Dakroub; E I Traboulsi
Journal:  Am J Med Genet       Date:  2001-03-15

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.  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

6.  Comment on: Bilateral idiopathic spontaneous filtering bleb with ectopia lentis: A case report and review of literature.

Authors:  Sirisha Senthil
Journal:  Indian J Ophthalmol       Date:  2018-04       Impact factor: 1.848

  6 in total

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