Dr.Rakshitha O P, R21473
Introduction: Alport syndrome is an inherited disorder affecting the COL4A5 gene which encodes the alpha 5 chain of type IV collagen which forms the basement membrane in renal, auditory and visual systems. The main ocular manifestations are anterior lenticonus,flecked retinopathy and posterior polymorphous dystrophy of cornea.Case report:A 21year old male patient presented with complaints of diminution of vision in both eye, decreased hearing and uremic symptoms. His UCVA was 6/24(OD) and 6/36(OS). On examination,anterior lenticonus with flecked retina was noted. He was diagnosed with CKD IV secondary to chronic tubulo-interstitial disease and bilateral SNHL. His BCVA was 6/12(OD) and 6/9(OS). Hearing loss and kidney disease was treated.Purpose:To create awareness regarding the early diagnosis and intervention in these patients through multidisciplinary approach and systemic care to strike a balance between audio-visual and psycho-educational development to enhance quality of life.
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