Clinical Presentation of Congenital Heterochromia Iridis in Pakistani Patients

Authors

  • Beenish Azad University of Poonch Rawalakot, Azad Kashmir. Pakistan
  • Muhammad Ilyas International Islamic University Islamabad Pakistan https://orcid.org/0000-0002-0392-1775
  • Sadaf Naheed Intenational Islamic University Islamabad. H-10. Islamabad
  • Sarah Bint-e-Irshad BPP,University ,London ,UK
  • Sidra Batool Malik International Islamic University Islamabad. H-10. Islamabad

DOI:

https://doi.org/10.36283/ziun-pjmd13-4/024

Keywords:

Congenital eye abnormalities, Clinical Case Report, Heterochromia, Iridis

Abstract

Heterochromia iridis is a rare genetic disorder, characterized by variation in the concentration and distribution of the melanin pigment. It is caused by mutation in genes responsible for the synthesis of melanin pigment iris of the eye. Heterochromia Iridis is inherited as a simple Mendelian trait. Heterochromia is normally harmless and does not require any specific treatment. It can be caused by congenital and acquired conditions like Waardenburg and Horner syndrome. It also occurs due to eye trauma. Eye trauma leads to iron deposition in the eyes which darkens the human iris.  There are four types of Heterochromia, such as complete, partial, central, and sectoral Heterochromia. Here we report 3 individuals, two with complete heterochromia iridis and one with sectorial/partial heterochromia iridis. Multiple disorders are associated with heterochromia iridis but these three individuals do not possess any other disorder. Counseling helps to reduce the psychological and mental pressure of the Heterochromia patients.

Author Biographies

  • Beenish Azad, University of Poonch Rawalakot, Azad Kashmir. Pakistan

    Department of Zoology

  • Muhammad Ilyas, International Islamic University Islamabad Pakistan

    Department of Biological Sciences

  • Sadaf Naheed, Intenational Islamic University Islamabad. H-10. Islamabad

    Department of Biological Sciences

  • Sarah Bint-e-Irshad, BPP,University ,London ,UK

    Healthcare Leadership Department 

  • Sidra Batool Malik, International Islamic University Islamabad. H-10. Islamabad

    Department of Biological Sciences

References

Saniasiaya J. Heterochromia iridis: More than beautiful eyes. Postgraduate Medical Journal. 2020; 96(1141):721. doi: 10.1136/postgradmedj-2020-137621.

Dabkowski M, Case J, Kloo I, Pickett J. Estimating the prevalence of heterochromia iridum from high-resolution digital yearbook portraits. Journal of Optometry. 2022; 15(3): 248-250. doi: 10.1016/j.optom.2021.08.002.

Tomar M, Dhiman R, Sharma G, Yadav N. Artistic iris: a case of congenital sectoral heterochromia iridis. Journal of Ophthalmic & Vision Research. 2018; 13(3):359. doi: 10.4103/jovr.jovr_91_17.

Rehman HU. Heterochromia. Canadian Medical Association Journal. 2008; 179(5):447-448. doi: 10.1503/cmaj.070497.

Schlessinger DI, Anoruo M, Schlessinger J. Biochemistry, melanin. InStatPearls [Internet] 2023. StatPearls Publishing. PMID: 29083759.

Splittstösser V, Schreiner F, Gohlke B, Welzel M, Holterhus PM, Woelfle J. A novel mutation of the StAR gene with congenital adrenal hyperplasia and its association with heterochromia iridis: a case report. BMC Endocrine Disorders. 2019; 19:1-4. doi: 10.1186/s12902-019-0448-2.

Alnefaie M, Jefri M, Almahmoudi F. A case of unilateral sectoral iris heterochromia in an infant with Beckwith-Wiedemann syndrome. American Journal of Ophthalmology Case Reports. 2021; 23:101150. doi:10.1016/j.ajoc.2021.101150.

Rennie IG. Don’t it make my blue eyes brown: heterochromia and other abnormalities of the iris. Eye. 2012; 26(1):29-50. doi: 10.1038/eye.2011.228.

Aggarwal NK, Gandham SB, Weinstein R, Saltzmann R, Walton DS. Heterochromia iridis and pertinent clinical findings in patients with glaucoma associated with Sturge–Weber syndrome. Journal of Pediatric Ophthalmology & Strabismus. 2010; 47(6):361-365. doi: 10.3928/01913913-20100218-01.

Dontsov A, Ostrovsky M. Retinal Pigment Epithelium Pigment Granules: Norms, Age Relations and Pathology. International Journal of Molecular Sciences. 2024;25(7):3609. doi: 10.3390/ijms25073609.

Mosca S, Morrone A. Human skin pigmentation: From a biological feature to a social determinant. InHealthcare. 2023; 11(14):2091. doi: 10.3390/healthcare11142091.

Lin PA, Hung JH, Huang YH. Heterochromia caused by Waardenburg syndrome in a 2-month-old infant. Canadian Medical Association Journal. 2024; 196(9):296. doi:10.1503/cmaj.231616.

White D, Rabago-Smith M. Genotype–phenotype associations and human eye color. Journal of human genetics. 2011; 56(1):5-7. doi: 10.1038/jhg.2010.126.

Oct-Dec 2024

Downloads

Published

2024-10-24

How to Cite

1.
Azad B, Ilyas M, Naheed S, Irshad SB, Malik SB. Clinical Presentation of Congenital Heterochromia Iridis in Pakistani Patients. PJMD [Internet]. 2024 Oct. 24 [cited 2025 Jan. 25];13(4):195-7. Available from: https://ojs.zu.edu.pk/pjmd/article/view/3114

Similar Articles

1-10 of 264

You may also start an advanced similarity search for this article.