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Background: Alport syndrome, a hereditary nephritis accompanied by high tone sensorineural deafness and distinctive ocular signs, was first reported in the early 1900s by Dr. Cecil A. Alport in 1927. Studies have demonstrated that it is caused by a genetic defect within one of the alpha chains of the type IV collagen, the major component of basement membranes (BM) in the kidney, inner ear, and eye. Pathologic biopsy studies and genotyping play an important role in evaluating patients with Alport syndrome. Difficulties still exist to confirm the diagnosis of Alport syndrome (AS) exactly (Xu et al. 2010).
Case Report: A middle aged male presented with bilateral reduced vision. His vision was not improved with refraction and anterior lenticonus and retinal flecks were significant during dilated fundus examination. We noticed facial puffiness and pallor. Then we obtained hypertension and reduced hearing from history. There was no known family history. We decided to do the investigations to confirm the diagnosis of Alport syndrome and to know the severity.
Conclusion: This is an unexpected case seen in the outreach vision screening. With the help of slit- lamp findings, Alport syndrome was diagnosed and associated nephropathy and sensorineural deafness were referred for the appropriate treatment. It is fascinating that eye screening can save a life for lifelong treatment.
Keywords: Anterior lenticonus, Alport Syndrome, Hereditary Nephritis, X-linked Alport syndrome (XLAS), autosomal recessive Alport syndrome (ARAS), autosomal dominant form (ADAS)
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