|LETTER TO THE EDITOR
|Year : 2018 | Volume
| Issue : 4 | Page : 604-605
Comment on: Bilateral idiopathic spontaneous filtering bleb with ectopia lentis: A case report and review of literature
VST Glaucoma Center, L V Prasad Eye Institute, Hyderabad, Telangana, India
|Date of Web Publication||26-Mar-2018|
Dr. Sirisha Senthil
VST Glaucoma Center, L V Prasad Eye Institute, Kallam Anji Reddy Campus, L V Prasad Marg, Road No. 2, Banjara Hills, Hyderabad - 500 034, Telangana
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Senthil S. Comment on: Bilateral idiopathic spontaneous filtering bleb with ectopia lentis: A case report and review of literature. Indian J Ophthalmol 2018;66:604-5
|How to cite this URL:|
Senthil S. Comment on: Bilateral idiopathic spontaneous filtering bleb with ectopia lentis: A case report and review of literature. Indian J Ophthalmol [serial online] 2018 [cited 2020 May 27];66:604-5. Available from: http://www.ijo.in/text.asp?2018/66/4/604/228471
I read with interest the article written by Chandran et al. about a case with bilateral spontaneous filtering blebs, scleral thinning, dislocated lenses, and hypotony. The case indeed is rare; the authors have mentioned similar cases reported in the literature with associated ocular/systemic abnormalities or facial dysmorphism and have ruled out similar associations in their case.
The authors in the current article did not mention about the ASPH mutation associated with syndromic ectopia lentis. Association of facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs is named Traboulsi syndrome or is also called as FDLAB syndrome. They have characteristic facial features of beaked nose and flat cheeks. It is to be noted that these facial features are very subtle and do not appear dysmorphic unless specifically looked for and often are described, normal. We have examined and treated two such cases, one a 29-year-old man and another a 32-year-old woman with similar ocular features. Both these patients were from different ethnicities and racial backgrounds. However, their ocular features and presentation were similar with the presence of bilateral spontaneous filtering blebs, ectopia lentis, and severe hypotony. Both these patients have facial features typical of ASPH mutation, a prominent beaked nose and mid-facial flattening. (It would be nice if the authors can share a facial photograph with the facial features (profile view) with appropriate consent from the patient). This condition usually results from mutations in the gene encoding an enzyme that hydroxylates aspartic acid and asparagine residues of epidermal growth factor. Eosinophil differentiation factor domain-containing proteins are implicated in the pathogenesis of syndromic ectopia lentis and spontaneous filtering blebs. The only way to confirm apart from the clinical diagnosis is genetic testing.
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.
Financial support and sponsorship
Hyderabad Eye Research Foundation supported the study.
Conflicts of interest
There are no conflicts of interest.
| References|| |
Chandran P, Khairnar AS, Aboobacker N, Raman GV. Bilateral idiopathic spontaneous filtering bleb with ectopia lentis: A case report and review of literature. Indian J Ophthalmol 2018;66:134-6.
] [Full text]
Patel N, Khan AO, Mansour A, Mohamed JY, Al-Assiri A, Haddad R, et al.
Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome. Am J Hum Genet 2014;94:755-9.