A Rare Case of Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome with Antimongloid Slant: Case Report

Downloads

Published

2022-12-14

DOI:

https://doi.org/10.56692/upjo.2022100107

Keywords:

Blepharophimosis, Epicanthus inversus syndrome, Ptosis, Antimongloid slant

Dimensions Badge

Issue

Vol. 10 No. 01 (2022): UP JOURNAL OF OPHTHALMOLOGY

Section

Case Report

License

Copyright (c) 2022 UP Journal of Ophthalmology

Creative Commons License

This work is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.

© Author, Open Access. This article is licensed under a CC Attribution 4.0 License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit https://creativecommons.org/licenses/byncsa/4.0/.

Authors

  • Kalyan Singh Department of Ophthalmology, GSVM Medical College Kanpur, Uttar Pradesh, India.
  • Indu Yadav Department of Ophthalmology, GSVM Medical College Kanpur, Uttar Pradesh, India.
  • Surbhi Agarwal Department of Ophthalmology, GSVM Medical College Kanpur, Uttar Pradesh, India.

Abstract

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare genetic condition caused by a mutation in the FOXL2 gene and it is inherited in an autosomal dominant pattern. Identification and diagnosis of BPES syndrome by an ophthalmologist are relatively easy, based on the characteristic ocular manifestations. The most common age group at the time of diagnosis is 4 to 8 years. Here, we present a case of BPES in a patient who presented to our OPD side with the syndrome at the age of 20 years. There is a need for increased awareness about this condition among ophthalmologists, as early diagnosis is the key factor in preventing long-term complications.

How to Cite

1.
Singh K, Yadav I, Agarwal S. A Rare Case of Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome with Antimongloid Slant: Case Report. UPJO [Internet]. 2022 Dec. 14 [cited 2026 Jul. 15];10(01):36-8. Available from: https://upjo.org/index.php/upjo/article/view/188

Downloads

Download data is not yet available.