SRINAGAR: Government Medical College (GMC) Anantnag doctors have reported what they describe as the first genetically confirmed case worldwide of a rare PAX2-related disorder involving iris coloboma, in a case report published in the prestigious Kidney International journal.
The report, titled Iris Coloboma in PAX2-Related Disorder, was authored by Dr Jawad Iqbal Rather, Assistant Professor, Department of General Medicine, and Dr Rayees Ahmad Sofi, Associate Professor and In-charge Head, Department of Ophthalmology, GMC Anantnag.
The article was published online on July 27, 2026, in Kidney International, the official journal of the International Society of Nephrology, which is ranked among the leading nephrology journals globally.
The case concerns a 22-year-old man with chronic kidney disease and gout who was also found to have bilateral cataracts and iris coloboma, a rare congenital abnormality in which part of the iris fails to develop normally.
According to the authors, the combination of kidney disease, gout, bilateral cataracts and iris coloboma, along with molecular confirmation of a previously unreported PAX2 gene variant, makes the case the first of its kind documented in medical literature.
The patient, who was born to closely related parents, had chronic kidney disease and gout. Investigations showed a serum creatinine level of 2.17 mg/dl and an estimated glomerular filtration rate (eGFR) of 43 ml/min/1.73 m², indicating impaired kidney function. A detailed ophthalmological examination using slit-lamp evaluation revealed bilateral cataracts and iris coloboma.
To investigate a possible genetic cause linking the kidney and eye abnormalities, the doctors conducted whole-exome sequencing, a genetic test capable of analysing thousands of genes simultaneously. The finding was subsequently confirmed through Sanger sequencing.
The genetic analysis identified a heterozygous PAX2 variant, c.87C>G; p.Asn29Lys. Multiple computational prediction tools suggested that the variant was damaging, while assessment under the guidelines of the American College of Medical Genetics and Genomics classified it as likely pathogenic.
The researchers noted that the variant had not previously been reported in the ClinVar database, making it a novel genetic finding.
PAX2-related disorders are known to affect the kidneys and eyes, but the authors said the combination observed in this patient expands the recognised clinical spectrum of the disorder.
The case also highlights the potential value of genetic testing in patients who present with kidney disease alongside unexplained ophthalmological abnormalities. The researchers said establishing an underlying genetic diagnosis can assist with clinical management, family counselling and long-term monitoring.
The publication has been welcomed by the administration and faculty of GMC Anantnag as a significant academic achievement for the institution.
Dr Showkat Hussain Tali, Media Coordinator, GMC Anantnag, said the publication was a matter of pride for both the authors and the medical college.
“This outstanding achievement brings immense pride to both the authors and to Government Medical College, Anantnag. It showcases the talent and dedication of our faculty in contributing to world-class medical research,” he said.
The college administration said such achievements would encourage students, residents and faculty members to pursue high-quality research and contribute to the institution’s growing academic profile at national and international levels.
