PURPOSE AND METHOD: To present a 26-year-old Italian woman affected by genetically ascertained Alport syndrome. The patient underwent a complete ophthalmological examination including: visual acuity, anterior and posterior segment biomicroscopy, MP1-microperimetry, colour fundus retinography, electrofunctional examinations (electrooculogram, electroretinogram, visually evoked potentials), computerized perimetry and Spectral Domain Optical Cohrence Tomography. RESULTS AND CONCLUSIONS: Nephritis, haematuria but no hearing impairment was observed. Visual function was normal, also confirmed by electrofunctional tests and computerized perimetry. The ocular involvement was only expressed by an early lamellar macular hole characterized by a density rarefaction in the tomographic images of both inner retina and superficial choroid. A rarefaction of the inner choroid in the whole macular region and in the peripapillary area, unusual for the young age of the patient, was also evident. We suppose that these tomographic findings might be caused by alterations of type IV collagen, typical of Alport syndrome.
PURPOSE AND METHOD: To present a 26-year-old Italian woman affected by genetically ascertained Alport syndrome. The patient underwent a complete ophthalmological examination including: visual acuity, anterior and posterior segment biomicroscopy, MP1-microperimetry, colour fundus retinography, electrofunctional examinations (electrooculogram, electroretinogram, visually evoked potentials), computerized perimetry and Spectral Domain Optical Cohrence Tomography. RESULTS AND CONCLUSIONS:Nephritis, haematuria but no hearing impairment was observed. Visual function was normal, also confirmed by electrofunctional tests and computerized perimetry. The ocular involvement was only expressed by an early lamellar macular hole characterized by a density rarefaction in the tomographic images of both inner retina and superficial choroid. A rarefaction of the inner choroid in the whole macular region and in the peripapillary area, unusual for the young age of the patient, was also evident. We suppose that these tomographic findings might be caused by alterations of type IV collagen, typical of Alport syndrome.