FP149

A rare case of X-linked dominant Alport syndrome.

A 14 year-old male, developed gradually progressive painless diminution of vision in left eye since 2 years. Family history- Similar complaints in 3 elder brothers with demise of 2. Visual acuity-OD- 6/12 improving to 6/9, OS-hand movements close to face with positive perception of light and projection of rays accurate in 4 quadrants. Anterior segment- OD-anterior subcapsular lenticular opacity. OS- calcification of anterior capsule, nucleus partially absorbed, vacuolations present, anterior and posterior capsule fused into dense white membrane. Fundus- OD-white and yellow granulations surrounding the fovea(dot and fleck retinopathy), OS-post cataract surgery-dot and fleck retinopathy. Urine analysis- pus cells with 20-30 RBCs/hpf ,2+ proteinuria. RFT-blood urea-55mg/dl, S. creatinine-2.3mg/dl. USG KUB- B/L contracted kidneys with increased cortical echoes, loss of corticomedullary differentiation. Audiometry- B/L sensorineural hearing loss. DNA test - COL4A5 gene + on Exon 53.