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Role of CYP1B1, p.E229K and p.R368H mutations among 120 families with sporadic juvenile onset open-angle glaucoma

  • Glaucoma
  • Published:
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Abstract

Background

To determine the frequency of CYP1B1 p.E229K and p.R368H, gene mutations in a cohort of sporadic juvenile onset open-angle glaucoma (JOAG) patients and to evaluate their genotype/phenotype correlation.

Methods

Unrelated JOAG patients whose first-degree relatives had been examined and found to be unaffected were included in the study. The patients and their parents were screened for p.E229K and p.R368H mutations. The phenotypic characteristics were compared between probands carrying the mutations and those who did not carry these mutations.

Results

Out of 120 JOAG patients included in the study, the p.E229K mutation was seen in 9 probands (7.5%) and p.R368H in 7 (5.8%). The average age of onset of the disease (p = 0.3) and the highest untreated IOP (p = 0.4) among those carrying mutations was not significantly different from those who did not have these mutations. The proportion of probands with angle dysgenesis among those with p.E229K and p.R368H mutations was 70% (11 out of 16) in comparison to 65% (67 out of 104) of those who did not harbour these mutations (p = 0.56). Similarly, the probands with moderate to high myopia among those with p.E229K and p.R368H mutations was 20% (3 out of 16) in comparison to 18% (18 out of 104) of those who did not harbour these mutations (p = 0.59).

Conclusion

The frequency of p.E229K and p.R368H mutations of the CYP1B1 gene is low even among sporadic JOAG patients. Moreover, there is no clinical correlation between the presence of these mutations and disease severity.

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Funding

The Indian Council of Medical Research provided financial support in the form of funding. The sponsor had no role in the design or conduct of this research.

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Authors and Affiliations

  1. Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, 110029, India

    Viney Gupta, Bindu I. Somarajan, Shikha Gupta, Abadh K. Chaurasia & Aditi Mehta

  2. Public Health Foundation of India, Gurgaon, India

    Gagandeep Kaur Walia

  3. Department of Ocular Biochemistry, All India Institute of Medical Sciences, New Delhi, India

    Jasbir Kaur & Sunil Kumar

  4. International Centre for Genetic Engineering and Biotechnology, New Delhi, India

    Dinesh Gupta & Abhinav Kaushik

  5. Department of Anthropology, University of Delhi, New Delhi, India

    Vipin Gupta

  6. Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India

    Arundhati Sharma

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  1. Viney Gupta
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Correspondence to Viney Gupta.

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Gupta, V., Somarajan, B.I., Walia, G.K. et al. Role of CYP1B1, p.E229K and p.R368H mutations among 120 families with sporadic juvenile onset open-angle glaucoma. Graefes Arch Clin Exp Ophthalmol 256, 355–362 (2018). https://doi.org/10.1007/s00417-017-3853-0

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