September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Ocular manifestations in Stevens - Johnson syndrome - A molecular perspective
Author Affiliations & Notes
  • Sushil Kumari Sangwan
    Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India
  • Arundhati Sharma
    Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India
  • Namrata Sharma
    Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, Delhi, India
  • Neena Khanna
    Department of Dermatology and Venerology, All India Institute of Medical Sciences, New Delhi, India
  • Tushar Agarwal
    Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, Delhi, India
  • Rasik Behari Vajpayee
    Center for Eye Research, University of Melbourne, Australia, Melbourne, Victoria, Australia
  • Footnotes
    Commercial Relationships   Sushil Sangwan, None; Arundhati Sharma, None; Namrata Sharma, None; Neena Khanna, None; Tushar Agarwal, None; Rasik Vajpayee, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science September 2016, Vol.57, 6566. doi:
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      Sushil Kumari Sangwan, Arundhati Sharma, Namrata Sharma, Neena Khanna, Tushar Agarwal, Rasik Behari Vajpayee; Ocular manifestations in Stevens - Johnson syndrome - A molecular perspective. Invest. Ophthalmol. Vis. Sci. 2016;57(12):6566.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : Stevens-Johnson syndrome (SJS) is a severe, life-threatening condition characterized by skin and mucous membrane necrosis and detachment. Long-term complication is damage to corneal surface followed by loss of visual acuity. Role of HLA, interleukins and apoptotic markers is postulated in its predisposition. The study reports on screening of molecular markers in SJS and correlation with graded severity of ocular manifestations.

Methods : 200 subject each, of SJS and controls were recruited after taking informed consent. Patients were graded on the basis of ocular findings under slit-lamp examination. Clinical details & family history was noted and 7 ml blood collected. DNA isolated from blood was used for PCR amplification followed by sequencing of interleukins IL4, IL4R and IL13, HLA alleles and serum was used to measure Granulysin and sFasL levels by ELISA.

Results : Of the 200 patients, 122 were males & 78 were females (mean age of onset 22.56 +10.50 yrs) and were classified into mild (35%), moderate (23%) and severe (42%) SJS based on ocular features. The main inciting drugs were antipyretics (59%) followed by antiepileptics (13.5%) and sulphonamides (4%). Interleukins revealed IL-13 coding region A/G polymorphism (rs20541) in 38%, IL-13 promoter region C/T change (rs1800925) in 28%, IL-4 T/C change (rs2243250) in 35%, IL-4R A/G polymorphism (rs1801275) in 33% of the patients. Correlation of genetic markers with ocular manifestations showed significant association of IL-4 promoter rs2243250 with trichiasis, IL-13 coding region rs20541 with mucocutaneous junction involvement and IL-13 promoter rs1800925 with conjunctival keratinisation. HLA screening showed alleles HLA-A*02:06(13.63%), HLA-A*24:02(31.81%), HLA-A*33:01(40.9%), HLA-A*02:01(27.27%) in patients. Raised levels of Granulysin (4.04+4.62 ng/ml) and sFasL (100.82 +98.12 pg/ml) were found in patients as compared to controls (1.00+0.91 ng/ml; 3.69+3.00 pg/ml respectively).

Conclusions : The study reports the role of interleukin genotypes & HLA alleles with severe ocular complications in SJS patients. Raised Granulysin and sFasL levels are indicative of severity of the disease. These markers may be used to screen at risk individuals on the basis of their genotypic profile & also paved one step forward for better care & management of patients with this debilitating disease.

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.

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