A Case Report of Alport’s Syndrome: A Rare Cause of Anterior and Posterior Lenticonus - Abstract
Background: Alport’s syndrome (AS) is a heterogeneous basement membrane disease characterized by hematuria with progressive hereditary nephritis, high-frequency sensorineural hearing loss (SNHL), and pathognomonic ocular lesions. The ocular finding of Alport’s syndrome has been reported only a handful of times previously in the literature. We described a case of Alport’s syndrome, its ophthalmic features, clinical manifestation, and diagnosis. Case presentation: A 59-year-old female patient of Arabian descent presented blurred vision associated with progressive hearing loss. Her uncorrected distance visual acuity (OD: 0.01&OS: 0.06). Slit lamp examination of eyes revealed bilateral anterior and posterior lenticonus with retroillumination, oil droplet reflex seen through retro illumination. Audiometry revealed bilateral severe sensorineural hearing loss for higher frequencies. Renal ultrasound showed bilateral small kidneys, with poor cortico-medullary differentiation parenchymal changes consistent with nephritis. A urine examination revealed mild proteinuria with increased blood urea (151 mg/dl) and serum creatinine (2.60 mg/dl). Conclusion: It is important to recognize Alport’s syndrome early in the course of the disease. This is facilitated by an integrated approach to diagnosis. The role of an ophthalmologist is prudent in the diagnosis of such interdisciplinary pathological entities. There should be a high index of suspicion for Alport’s syndrome in any patient presenting with anterior and posterior lenticonus. Early diagnosis can improve longevity and improve the prognosis of Alport’s syndrome patients.