Srinagar, Aug 3: A team of doctors from Government Medical College (GMC) Anantnag has reported what is believed to be the world’s first genetically confirmed case of a rare inherited disorder linking chronic kidney disease and congenital eye abnormalities, a discovery that researchers say could significantly improve the diagnosis and management of similar patients worldwide.
The landmark study, published in ‘Kidney International’—the official journal of the International Society of Nephrology—identified a previously unknown mutation in the PAX2 gene, broadening scientific understanding of PAX2-related disorders and adding a new genetic variant to global medical literature.
The research was carried out by Dr. Jawad Iqbal Rather, Assistant Professor in the Department of General Medicine, and Dr. Rayees Ahmad Sofi, Associate Professor and In-charge Head of the Department of Ophthalmology at GMC Anantnag. The paper, titled “Iris Coloboma in PAX2-Related Disorder,” was published on July 27, 2026, in one of the world’s highest-ranked nephrology journals, which has an Impact Factor of 21.8 and a CiteScore of 23.1.
The study documents the case of a 22-year-old man who presented with chronic kidney disease and gout. During a comprehensive ophthalmic evaluation, doctors also identified bilateral cataracts and iris coloboma—a rare congenital defect in which a portion of the iris, the coloured part of the eye, fails to develop completely before birth.
To determine the underlying cause of the unusual combination of symptoms, the patient underwent whole-exome sequencing, an advanced genetic test that examines thousands of genes simultaneously. The findings were subsequently validated using Sanger sequencing, regarded as the gold standard for confirming genetic mutations.
The analysis revealed a previously unreported heterozygous missense mutation in the PAX2 gene, designated as c.87C>G (p.Asn29Lys).
According to the researchers, multiple computational prediction models classified the variant as damaging, while it met the American College of Medical Genetics and Genomics (ACMG) criteria for being “likely pathogenic,” indicating that it is likely responsible for causing the disease.
The researchers noted that the genetic variant has not previously been documented in the international ClinVar database, making it an entirely novel discovery.
They said the combination of chronic kidney disease, gout, bilateral cataracts, iris coloboma and molecular confirmation of a previously unknown PAX2 mutation distinguishes the case from all previously reported cases worldwide.
The findings, they said, expand the known clinical spectrum of PAX2-related disorders and underscore the importance of considering genetic testing in patients who present with kidney disease alongside unexplained eye abnormalities.
The authors observed that an early genetic diagnosis can facilitate timely treatment, enable appropriate family counselling and improve long-term clinical monitoring of affected individuals.
Doctors said the discovery demonstrates the value of multidisciplinary collaboration in diagnosing rare disorders and highlights the growing research capabilities of institutions in Jammu and Kashmir.
“This discovery not only expands the global understanding of PAX2-related disorders but also reinforces the importance of detailed ophthalmic evaluation and advanced genetic testing in patients with unexplained kidney disease. Early diagnosis can make a significant difference in patient management, family screening and long-term follow-up. We are proud that this work from GMC Anantnag has contributed new knowledge to international medical literature,” they said.
