Unveiling The Hidden Link: Stickler Syndrome And Advanced Kidney Disease In A Young Patient

To present a rare case of Stickler syndrome associated with advanced chronic kidney disease in a young patient, emphasizing the importance of a multidisciplinary approach in diagnosis and management.

A 22-year-old female patient was referred for ophthalmological evaluation in the context of advanced renal insufficiency and suspected dry eye syndrome at a tertiary healthcare facility with multidisciplinary specialties.

The patient presented with a history of chronic renal failure and visual complaints. Ophthalmological examination revealed visual acuity of 9/10 bilaterally, a quiet anterior segment, and bilateral intra-vitreal condensations. Fundus examination showed arteriovenous crossings and flame-shaped hemorrhages in the right eye. B-scan ultrasound confirmed the presence of hyper-echoic intra-vitreal condensations, while OCT revealed intra-vitreal hyper-reflectivity and posterior shadowing. Notably, the patient exhibited facial dysmorphia, including retro-micrognathism and an elongated forehead. These findings, along with the clinical history, led to the diagnosis of Stickler syndrome, with an unusual association with chronic kidney disease, which is rarely reported in the literature.

This case highlights the diverse clinical manifestations of Stickler syndrome, including ophthalmic abnormalities, facial dysmorphia, and rare systemic complications like chronic kidney disease. Early recognition of these signs is essential for timely intervention and a multidisciplinary approach, which is crucial in preventing the progression of both renal and ocular complications.