A case of Alport syndrome with abnormality of retina and anterior capsule

Purpose: To report a case of Alport syndrome with abnormal retina and anterior capsule in the lens. Case: A 27-year-old male was referred to us for reduced visual acuity in both eyes. He had received renal transplantation for renal failure due to Alport syndrome. Findings and Clinical Course: Corrected visual acuity was 0.3 right and 0.5 left. Both eyes showed anterior lenticonus in both eyes. Funduscopy showed dot-and-fleck lesions in the perimacular and peripheral retina. Optical coherence tomography showed thinning of inner layer in the temporal retina in both eyes. There was no loss of sensitivity at these sites by microperimetry. Multifocal ERG showed no amplitude attenuation in the thinned retinal area. Both eyes received cataract surgery. The removed anterior capsule showed thinning and multiple vertical dehiscences by electron microscopy. Lens epithelial cells were vacuolated and contained fewer intracellular organelles. Visual acuity improved to 1.0 in either eye. Conclusion: This case of Alport syndrome showed refractive abnormalities due to lenticonus but no obvious retinal dysfunction. The lens capsule showed structural abnormalities. Visual acuity improved after cataract surgery.