Chopra–Amiel–Gordon Syndrome with Severe Renal and Ophthalmologic Involvement

Chopra–Amiel–Gordon syndrome (CAGS) is a rare disorder caused by pathogenic variants of the ANKRD17 gene. This condition is an autosomal dominant neurodevelopmental disorder characterized by developmental delay, speech impairment, epilepsy, behavioral abnormalities, and craniofacial abnormalities. In the present case, a 10-year-old boy with a heterozygous ANKRD17 pathogenic variant presented with classical features of CAGS along with involvement of multiple body systems. Furthermore, progressive renal disease with bilateral renal and ureteric calculi leading to chronic kidney disease, cerebral and cerebellar atrophy on neuroimaging, and severe ophthalmologic abnormalities, including bilateral cataracts, buphthalmos, and phthisis bulbi, were noted. Early genetic diagnosis is important for optimal care, and continued case reporting is crucial to refine genotype–phenotype correlations in this rare disorder. Keywords: Chopra–Amiel–Gordon syndrome; ANKRD17; neurodevelopmental disorder; chronic kidney disease; renal calculi; ophthalmologic abnormalities; cataract; rare genetic disorder.