Importance of ocular examination as a prerequisite in renal dysfunction patients prior to renal transplantation - A case report

Alport’s syndrome is a heterogeneous genetic disease involving the basement membrane of the glomeruli, inner ear, retina, and lens capsule. A 30-years-old male patient, recently diagnosed with chronic kidney disease (CKD) stage 5 awaiting for renal transplantation presented to the ophthalmology outpatient department with a complaint of gradual decrease in vision in both eyes since 2 years. Patient has a history of anemia, hypertension for the past 3 years and was on medication for both. On ocular examination, unaided vision was counting fingers (CF)- 2 meters in both eyes with pinhole improvement to 6/60 in both eyes. On slit lamp examination, bilateral anterior lenticonus was seen after pupil dilation. On detailed history taking, the patient has a history of hearing loss since the past 6 months. ENT consultation was done, and the patient was found to have bilateral moderate sensorineural hearing loss. The presence of ocular abnormalities, bilateral sensorineural hearing loss and renal failure is highly suggestive of Alport’s syndrome. When a genetic disorder is identified, it aids in identifying the cause of renal dysfunction in that patient but also enables us to screen other family members for the same before deciding on the potential living donor. Keywords: lenticonus; hematuria; deafness; renal failure; Alport’s syndrome