Genetic Insights into Alport Syndrome: A Case Report Highlighting COL4A3 Mutation and Ocular Phenotype

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Published

2026-07-31

DOI:

https://doi.org/10.56692/upjo.2026140210

Keywords:

Anterior lenticonus,, Alport syndrome,, COL4A3 mutation, Hearing loss

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Issue

Vol. 14 No. 02 (2026): UP JOURNAL OF OPHTHALMOLOGY

Section

Case Report

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Creative Commons License

This work is licensed under a Creative Commons Attribution 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

  • Ruchi Shukla Department of Ophthalmology, All India Institute of Medical Sciences, Raebareli, Uttar Pradesh, India
  • Aparajita Shukla Department of Ophthalmology, All India Institute of Medical Sciences, Raebareli, Uttar Pradesh, India
  • Rinkle Nahar Department of Ophthalmology, All India Institute of Medical Sciences, Raebareli, Uttar Pradesh, India
  • Swarastra Prakash Singh Department of Ophthalmology, All India Institute of Medical Sciences, Raebareli, Uttar Pradesh, India
  • Ashutosh Kumar Mishra Department of Ophthalmology, All India Institute of Medical Sciences, Raebareli, Uttar Pradesh, India

Abstract

Alport syndrome is a hereditary disorder characterized by ocular abnormalities, sensorineural hearing loss, and progressive renal involvement. We report a case of a 19-year-old female who presented with complaints of infrequent flashes of light in the left eye. Ophthalmic evaluation revealed high myopia, anterior lenticonus confirmed by anterior segment optical coherence tomography (AS-OCT), and temporal macular thinning on macular OCT. Systemic workup demonstrated bilateral moderate sensorineural hearing loss and severe proteinuria, with normal renal function. Genetic testing identified a probable compound heterozygous pathogenic variant in the COL4A3 gene, confirming autosomal recessive Alport syndrome. This case underscores the pivotal role of detailed ophthalmic examination as an early diagnostic clue and highlights genetic analysis as an essential tool for definitive diagnosis, prognostication, and guiding multidisciplinary management.

How to Cite

1.
Shukla R, Shukla A, Nahar R, Singh SP, Mishra AK. Genetic Insights into Alport Syndrome: A Case Report Highlighting COL4A3 Mutation and Ocular Phenotype. UPJO [Internet]. 2026 Jul. 31 [cited 2026 Jul. 31];14(02):100-3. Available from: https://www.upjo.org/index.php/upjo/article/view/685

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